a project of the German Society of Anesthesiology and Intensive Care Medicine

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Categories

Folder 22q11.2 deletion syndrome

Disease name: 22q11.2 deletion syndrome

ICD 10: D82.1 (DiGeorge-syndrome), Q93.81 (velo-cardio-facial syndrome)

Synonyms: DiGeorge-syndrome, velocardiofacial-syndrome (VCFS), Shprintzen-syndrome, “CATCH-22”-syndrome, conotruncal anomaly face syndrome, Takao syndrome

 

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22q11.2 deletion syndrome

Folder 3-M syndrome

Disease name: 3-M syndrome

ICD 10: Q87.1

Synonyms: Dolichospondylic dysplasia, 3Μ dwarfism, gloomy face syndrome, le Merrer syndrome

 

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3-M syndrome

 

The update 2019 version you find here:

Folder 3MC syndrome - Michels syndrome

Disease name:   3MC syndrome, Michels syndrome

ICD 10: -

Synonyms:  Malpuech-Michels-Mingarelli-Carnevale syndrome

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s001

Folder Achondroplasia

Disease name: Achondroplasia

ICD 10: Q77.4

Synonyms: Chondrodysplasia, Chondrodystrophia fetalis

 

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Achondroplasia

Folder Acute adrenal insufficiency

Disease name: Acute adrenal insufficiency

ICD 10: E27.1-E27.4

Synonyms: Addisonian crisis

 

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Acute adrenal insufficiency

Folder Alkaptonuria

Disease name: Alkaptonuria


ICD 10: E70.2

Synonyms: Hereditary ochronosis, Homogentisate dioxygenase deficiency

 

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Alkaptonuria

Folder Allgrove syndrome

Disease name:   Allgrove Syndrome
 
ICD 10:  E27.4
 
Synonyms: Triple A syndrome, 4 A Syndrome, Achalasia-Addisonianism-Alacrima syndrome

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s001

Folder Alpha-mannosidosis

Disease name: Alpha-mannosidosis

ICD 10: E77.1

Synonyms: Lysosomal alpha-D-mannosidase deficiency, Alpha-Mannosidase B Deficiency

 

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Alpha-mannosidosis

 

The update 2019 version you find here:

Folder Alport syndrome

Disease name: Alport syndrome

ICD 10: Q87.81

Synonyms: Hereditary nephritis

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s405

Folder Alternating hemiplegia of childhood syndrome

Disease name:  Alternating hemiplegia of childhood syndrome (AHC)

ICD 10:  G98

Synonyms:  AHC syndrome (An ATP1A3-related neurologic disorder).  AHC was named for its most striking and diagnostic motor symptom; however, the range of manifestations show it to be a CNS disorder affecting function broadly in various brain circuits, heart and the disease evolves with age.

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s311

Folder Amniotic band syndrome

Disease name: Amniotic band syndrome
 
ICD 10: P02.8
 
Synonyms: Amniotic band constriction, ADAM complex (amniotic deformities, adhesion, mutilation), amniotic band sequence, congenital constriction bands, pseudoainhum, limb body wall complex, amniotic disruption complex, annular grooves, congenital amputation, Streeter bands, Streeter anomaly, transverse terminal defects of limb, aberrant tissue bands, amniochorionic mesoblastic fibrous strings, amniotic bands
 
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DOI: 10.19224/ai2019.s421

Folder Amyotrophic lateral sclerosis

Disease name: Amyotrophi lateral sclerosis

ICD 10: G 12.2

Synonyms: Charcor disease, Lou Gehrig's disease

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Amyotrophic lateral sclerosis

Folder Andersen disease

Disease name:   Andersen Disease (GSD IV)

ICD 10:  E74.09

Synonyms:  Adult polyglucosan body disease, Amylopectinosis, Andersen disease, Andersen glycogenosis, brancher deficiency, branching enzyme deficiency, glycogen branching enzyme deficiency, glycogenosis type IV, glycogen storage disease IV, glycogen storage disease type 4, glycogenosis 4, glycogenosis type IV, GSD IV, GSD type IV, GSD4, type IV glycogenosis

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s013

Folder Angelman syndrome

Disease name: Angelman syndrome

ICD 10: Q93.5

Synonyms: (Happy) puppet syndrome

 

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Angelman syndrome

 

The update 2019 version you find here:

Folder Anti-NMDA-receptor encephalitis

Disease Name:  Anti-NMDA-receptor encephalitis

ICD 10: G04.81 (Other encephalitis, myelitis and encephalomyelitis)

Synonyms: Anti-N-methyl-D-aspartate-receptor encephalitis, Anti-NMDAR encephalitis

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Anti-NMDA-receptor encephalitis

Folder Antiphospholipid antibody syndrome

Disease name: Antiphospholipid Antibody Syndrome (APS)

ICD 10: D68.6

Synonyms: Antiphospholipid Syndrome (APS)

 

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Antiphospholipid antibody syndrome

Folder Apert syndrome

Disease name: Apert syndrome

ICD 10: Q87.0

Synonyms: ACS 1, Acrocephalosyndactyly type 1

 

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Apert syndrome

Folder Argininosuccinate Lyase Deficiency

Disease name:  Argininosuccinate Lyase Deficiency
 
see also:             Urea cycle disorders
 

ICD 10: E72.2

Synonyms: ASA deficiency, ASL deficiency, Argininosuccinase deficiency, Argininosuccinatelyase deficiency, argininosuccinic acid lyase deficiency

Folder Aromatic L-amino acid decarboxylase deficiency

Disease name:  Aromatic L-amino acid decarboxylase deficiency

ICD 10:  G24.8/ E70.9

Synonyms:  AADC deficiency, DDC deficiency, DOPA decarboxylase deficiency, ALADD, AAD

Folder Arrhythmogenic right ventricular dysplasia

Disease name: Arrhythmogenic right ventricular dysplasia

ICD 10: I42.8
 
Synonyms: arrhythmogenic right ventricular cardiomyopathy
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s428

Folder Arthrogryposis multiplex congenita

Disease name: Arthrogryposis multiplex congenita

ICD 10: Q74.32

Synonyms: Arthrogryposis, Amyoplasia Congenita, Congenital Arthromyodysplasia, Guérin-Stern syndrome, Myodystrophia Fetalis Deformans

 

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Arthrogryposis multiplex congenita

 

The update 2019 version you find here:

Folder Autism spectrum disorder

Disease name: Autism spectrum disorder (ASD)

ICD 10: F84: Pervasive development disorder; F84.0: Autistic disorder; F84.2: Rett's syndrome (not part of ASD); F84.3: Other childhood disintegrative disorder; F84.5: Asperger's syndrome; F84.8: Other pervasive development disorders; F84.9: Pervasive development disorder, unspecified

Synonyms: Autistic disorder, childhood autism, pervasive developmental disorder (not otherwise specified), atypical autism, Asperger syndrome, high-functioning autism

 

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Autism spectrum disorder

Folder Beals syndrome

Disease name: Beals syndrome

ICD 10:  Q68.8

Synonyms:  Congenital contractural arachnodactyly (CCA), Beals syndrome, Beals-Hecht syndrome

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s415

Folder Beckwith–Wiedemann syndrome

Disease name: Beckwith–Wiedemann syndrome

ICD 10: 68730

Synonyms: Exomphalos-Macroglossia – Gigantism Syndrome (EMG Syndrome)

 

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Beckwith-Wiedemann syndrome

Folder Behcet’s disease

Disease name: Behcet’s disease
 
ICD 10: M 35.2
 
Synonyms: Behcet’s syndrome, BD
 
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Folder Biliary atresia

Disease name: Biliary atresia
 
ICD 10: Q44.2
 
Synonyms: Extrahepatic biliary atresia, familial extrahepatic biliary atresia, idiopathic extrahepatic biliary atresia
 
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Folder Biotinidase deficiency

Disease name: Biotinidase deficiency

ICD 10: E53.8

Synonyms: Late-Onset Biotin-aesponsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency

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DOI: 10.19224/ai2021.s014

Folder Birt-Hogg-Dube syndrome

Disease name: Birt-Hogg-Dubé syndrome (BHDS)

ICD10: D23.9

Synonyms: Hornstein-Knickenberg syndrome

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Birt-Hogg-Dube syndrome

Folder Bland-White-Garland syndrome

Disease name: Bland-White-Garland syndrome

ICD 10: Q24.5

Synonyms: BWGS, Anomalous left coronary artery from the pulmonary artery (ALCAPA), White-Garland syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s001

Folder Blue Rubber Bleb naevus syndrome

Disease name: Blue Rubber Bleb Naevus syndrome
ICD 10: D18
Synonyms: Bean syndrome, Gascoyne syndrome

Folder Bronchopulmonary dysplasia

citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2019.s448

 

Disease name: Bronchopulmonary dysplasia

ICD 10: P27.1

Synonyms: Chronic lung disease of prematurity

Folder Brugada syndrome

Disease name: Brugada syndrome

ICD 10: I47.2

Synonyms: SUNDS - Sudden unexplained nocturnal death syndrome, Idiopathic ventricular fibrillation, Pokkuri (Japanese), Bangungut, Lai Tai (Philippines and Southeastern Asia).

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Brugada syndrome

 

Folder Bullous pemphigoid

Disease name: Bullous Pemphigoid (BP)
 
ICD 10: L12.0

Synonyms: - 
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s115

Folder CADASIL syndrome

Disease name: CADASIL syndrome

ICD 10: F01 Vascular dementia; F01.2 Subcortical vascular dementia


Synonyms: Dementia, hereditary multi-infarct type, Casil

 

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CADASIL

 

The update 2019 version you find here:

Folder Campomelic dysplasia

Disease name: Camp(t)omelic dysplasia

ICD 10: Q87.1

Synonyms: Camp(t)omelic dwarfism, Camp(t)omelic syndrome,
Certain phenotypes are named: acamp(t)omelic camp(t)omelic dysplasia

 

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DOI: 10.19224/ai2020.s067

Folder Catecholaminergic polymorphic ventricular tachycardia

Disease name: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

ICD 10: I47 (Paroxysmal tachycardia), I47.2 (Ventricular tachycardia), ORPHA3286

Synonyms: Catecholamine-induced polymorphic ventricular tachycardia, bidirectional tachycardia induced by catecholamines, familial polymorphic ventricular tachycardia (FPVT),stress-induced polymorphic ventricular tachycardia

 

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Catecholaminergic polymorphic ventricular tachycardia

Folder Central core disease

Disease name: Central Core disease

ICD 10: G71.2

Synonyms: Shy-McGee syndrome

 

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Central core disease

 

The update 2019 version you find here:

Folder Cerebrotendinous xanthomatosis

Disease name: Cerebrotendinous xanthomatosis
 
ICD 10: E75.5
 
Synonyms: cerebrotendinous xanthomatosis, CTX, cerebral cholesterosis
 
Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2019.s456

Folder Chanarin-Dorfman-Syndrom

Disease name: Chanarin-Dorfman-Syndrom

ICD 10: E75.5

Synonyms: Neutral Lipid Storage Disease with ichthyosis

Folder Charcot-Marie-Tooth disease

Disease name: Charcot-Marie-Tooth disease

ICD 10: G60.0

Synonyms: Hereditary motor and sensory neuropathy. Includes: Charcot-Marie-Tooth, Déjerine-Sottas, hereditary motor and sensory neuropathy (however this term includes several entities different from Charcot-Marie-Tooth with heterogeneous inheritance), hypertrophic neuropathy of infancy, Peroneal muscular atrophy (axonal type) (hypertrophic type), Roussy-Lévy syndrome

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Charcot-Marie-Tooth disease

Folder CHARGE syndrome

Disease name: CHARGE syndrome

ICD 10: Q87.8

Synonyms: CHARGE association; Hall-Hittner syndrome

 

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Charge syndrome

 

The update 2019 version you find here:

Folder Coffin-Siris syndrome

Disease name: Coffin-Siris syndrome
 
ICD 10: Q87.1
 
Synonyms: CSS
 
Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2019.s531

Folder Collagen VI-related myopathy

Disease name: Collagen VI-related myopathy

ICD 10: G71

Synonyms/Spectrum of phenotypes: 

Mild: Bethlem myopathy/ benign congenital muscular dystrophy
Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy
Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy
 
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Folder Congenital cataracts, facial dysmorphism and neuropathy syndrome

Disease name:  Congenital cataracts, facial dysmorphism and neuropathy syndrome

ICD 10:  Q87.8

Synonyms:  CCFDN syndrome

 

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Folder Congenital central hypoventilation syndrome

Disease name:  Congenital central hypoventilation syndrome

ICD 10:  G47.3

Synonyms:  Undine syndrome, Ondine’s curse

 

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Congenital hypoventilation syndrome

Folder Congenital diaphragmatic hernia

Disease name: Congenital Diaphragmatic Hernia (CDH)
 
ICD 10: Q 79.0
 
Synonyms: CDH (congenital diaphragmatic hernia)
 
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Folder Congenital hypothyroidism

Disease name: Congenital hypothyroidism

ICD 10:
E03.0 with diffuse goiter
E03.1 without goiter

Synonyms: CH, neonatal hypothyroidism, fetal iodine deficiency disorder


Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s125

Folder Congenital pulmonary airway malformation

Disease name:   Congenital Pulmonary Airway Malformation (CPAM)

ICD 10:  Q33.0

Synonyms:  Congenital cystic adenomatoid malformation of lung (CCAM), Congenital honeycomb lung, Cystic adenomatoid malformation, Cystic lung, congenital, Single lung cyst

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DOI: 10.19224/ai2022.s015

Folder Conjoined twins

Disease name: Conjoined twins

ICD 10: Q 89.4

Synonyms: Siamese twins

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DOI: 10.19224/ai2021.s021

Folder Cornelia-de-Lange syndrome

Disease name: Cornelia de Lange syndrome

ICD 10: Q87.1

Synonyms: De Lange Syndrome, Brachmann-de Lange syndrome, Typus degenerativus amstelodamensis

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2021.s069

Folder Costello syndrome

Disease name: Costello syndrome

ICD 10: Q87.8

Synonyms: Significant phenotypical overlap with CFC (cardiofaciocutaneous syndrome) 

 

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DOI: 10.19224/ai2021.s075

Folder Crouzon syndrome

Disease name: Crouzon syndrome

ICD 10: Q75.1

Synonyms: Craniofacial dysostosis, first branchial arch syndrome

 

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Crouzon syndrome

Folder Cyclical vomiting syndrome

Disease name: Cyclical (or cyclic) vomiting syndrome
 
ICD 10: G43.A0
 
Synonyms: Cyclical vomiting, not intractable; persistent vomiting, cyclical; cyclic vomiting, psychogenic

Folder Cystic fibrosis

Disease name: Cystic fibrosis

ICD 10: E84.0

Synonyms: Mucoviscidosis

 

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Cystic fibrosis

Folder de Barsy syndrome

Disease name: De Barsy syndrome
 
ICD 10: Q87.7; OMIM 614438
 
Synonyms: DBS, De Barsy-Moens-Dierckx syndrome, Progeroid syndrome of De Barsy, Autosomal recessive cutis laxa Type 3
*With 2 gene subdivisions:
ARCL3A: caused by a ALDH18A1 mutation
ARCL3B: caused by a PYCR1 mutation
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2021.s100

Folder Deletion 9p syndrome

Disease name: Deletion 9p Syndrome
 
ICD 10: Q93.5
 
Synonyms: Alfi's Syndrome, 9p minus syndrome, chromosome 9p deletion syndrome
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2021.s106

Folder Dermatomyositis

Disease name: Dermatomyositis

ICD 10: M33.90

Synonyms: Adult dermatomyositis, polymyositis, idiopathic inflammatory myopathy, juvenile dermatomyositis (onset < 18 yrs)

Folder Distal arthrogryposis type 1

Disease name: Distal arthrogryposis type 1 (A and B)

ICD 10: Q74.3

Synonyms: Distal arthrogryposis multiplex congenita type I, distal arthrogryposis type 1A, distal arthrogryposis type 1B

Folder Distal arthrogryposis type 3

Disease name: Distal arthrogryposis type 3

ICD 10: Q74.3

Synonyms: Gordon syndrome; distal arthrogryposis multiplex congenita type IIA; camptodactyly, cleft palate, and clubfoot

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s536

Folder Donohue syndrome

Disease name:  Donohue syndrome

ICD 10:  E34.8

Synonyms:  Leprechaunism

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Donohue syndrome

Folder Dubowitz syndrome

Disease name:  Dubowitz syndrome

ICD 10:  Q87.1

Synonyms:  intrauterine primordial microsomia

 

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s167

Folder Duchenne muscular dystrophy

Disease name: Duchenne muscular dystrophy

ICD 10: G71.2

Synonyms: Dystrophinopathy

 

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Duchenne masucular dystrophy

 

The update 2019 version you find here:

Folder Dyke-Davidoff-Masson syndrome

Disease name:  Dyke-Davidoff-Masson syndrome

ICD 10:  Q04.3

Synonyms:  Cerebral hemi-atrophy; Cerebral hemi-hypoplasia

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s023

Folder Ehlers–Danlos syndrome

Disease name: Ehlers–Danlos syndrome

ICD 10: Q79.6

Synonyms: Dystrophinopathy

 

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Ehlers-Danlos syndrome

 

The update 2019 version you find here:

Folder Eisenmenger's syndrome

Disease name: Eisenmenger's syndrome

ICD 10: Q21.8

Synonyms: Eisenmenger's disease; Eisenmenger's complex

 

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s173

Folder Ellis-van Creveld syndrome

Disease name: Ellis van-Creveld syndrome (EVC)
 
ICD 10: Q77.6
 
Synonyms: Chondroectodermal dysplasia, Mesodermic dysplasia
 
Citable version for download in the Journal A&I www.ai-online.info:
 

Folder Emery-Dreifuss muscular dystrophy

Disease name: Emery-Dreifuss Muscular Dystrophy (EDMD)

ICD 10: G71.0

Synonyms: Benign Scapuloperoneal Muscular Dystrophy, Hauptmann-Thannhauser Muscular Dystrophy, EDMD 1 (X-linked affecting EMD gene), EDMD 2/3 (autosomal dominant/recessive affecting LMNA gene). Other laminopathies may be phenotypically similar.

 

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Emery-Dreifuss muscular dystrophy

Folder Epidermolysis bullosa

Disease name: Epidermolysis bullosa

ICD 10: Q81

Synonyms: -

 

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Epidermolysis bullosa

 

The update 2020 version you find here:

Folder Erdheim-Chester disease

Disease name: Erdheim-Chester disease

ICD 10: C96.1 (ICD-9-CM: 202.3)

Synonyms: ECD is also called lipoid granulomatosis; non-Langerhans cell histiocytosis; Erdheim-Chester syndrome; polyostotic sclerosing histiocytosis
 
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Folder Escobar syndrome

Disease name: Multiple pterygium syndrome, Escobar variant

ICD 10: Q79.8

Synonyms: Escobar syndrome; pterygium syndrome; multiple pterygium syndrome, non-lethal type; familial pterygium syndrome; pterygium colli syndrome; pterygium universale

 

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s183

Folder Fabry disease

Disease name:  Fabry disease

ICD 10:  E75.2

Synonyms:  Morbus Fabry, Anderson Fabry disease, Fabry syndrome, Angiosarkoma corporis diffusum, α-galactosidase A deficiency

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s074

Folder Familial Dysautonomia

Disease name: Familial Dysautonomia

ICD 10: G90.1

Synonyms: Riley-Day syndrome, Hereditary Sensory and Autonomic Neuropathy Type III, HSAN III, HSAN3, HSN-III

Folder Fibrodysplasia ossificans progressiva

Disease name: Fibrodysplasia ossificans progressiva

ICD 10: M61.1

Synonyms: FOP

 

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Fibrodysplasia ossificans progressiva

Folder Fragile X syndrome

Disease name: Fragile X syndrome

ICD 10: Q99.2

Synonyms: FXS, FraX-Syndrome, Marker X Syndrome, Martin-Bell-Syndrome

 

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Fragile X syndrome

Folder Fraser syndrome

Disease name: Fraser syndrome

ICD 10: Q87.0

Synonyms: Cryptophthalmos syndrome

 

Citable version for download in the Journal A&I www.ai-online.info:

 

Fraser syndrome

Folder Freeman-Burian syndrome

Disease name: Freeman-Burian syndrome

ICD 10: Q87.0

Synonyms: Freeman-Sheldon syndrome, Whistling face syndrome, distal arthrogryposis type 2A, craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, cranio-facio-corporal syndrome

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s008

 

Folder Friedreich's ataxia

Disease name: Friedreich’s Ataxia

ICD 10: G11.1

Synonyms: -

 

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Friedreich's ataxia

Folder Fucosidosis

Disease name:  Fucosidosis (OMIM 230000)

ICD 10: E77.1

Synonyms: Alpha-L-Fucosidase Deficiency

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s266

Folder Gaucher disease

Disease name: Gaucher disease
 
ICD 10: E75.2
 
Synonyms: sphingolipidosis (lysosomal storage disorder, deficiency of glucocerebrosidase)
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s284

Folder Gerstmann-Sträussler-Scheinker syndrome

Disease name:  Gerstmann Sträussler Scheinker syndrome

ICD 10:  A81.9

Synonyms:  Gerstmann-Straussler-Scheinker syndrome, Gerstmann-Sträussler-Scheinker syndrome, GSS syndrome, GSS, Gerstmann-Straussler-Scheinker disease, Gerstmann-Sträussler-Scheinker disease, Gerstmann-Straussler syndrome

Folder Giant axonal neuropathy

Disease name:   Giant axonal neuropathy

ICD 10:  G60.8

Synonyms:  GAN

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s273

Folder Glanzmann's Thrombasthenia

Disease name:   Glanzmann’s thrombasthenia

ICD 10: D69.1

Synonyms: Glanzmann syndrome; Glanzmann-Nägeli syndrome; Glycoprotein IIb (GPIIb/III) complex deficiency; Haemorrhagic thrombasthenia; Hereditary thrombasthenia; Hereditary thrombocytopenic purpura; Platelet Fibrinogen receptor deficiency; Platelet glycoprotein IIb/IIIa deficiency; Thrombasthenia; Thrombocytasthenia.

 

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Glanzmanns Thrombasthenia

Folder Glucose-6-phosphate dehydrogenase deficiency

Disease name: Glucose-6-phosphate dehydrogenase deficiency

ICD 10: D55.0

Synonyms: Favism, G6PD deficiency, Glucosephosphate dehydrogenase deficiency

 

Citable version for download in the Journal A&I www.ai-online.info:

 

Glucose-6-phosphate dehydrogenase deficiency

Folder Glutaric acidaemia type 1

Disease name: Glutaric acidaemia type 1

ICD 10: E72.3 - Disorders of lysine and hydroxylysine metabolism

Synonyms: Glutaric aciduria type 1, Glutaric acidemia type 1

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s108

Folder Glycogen Storage Disease Type I

Disease name: Glycogen storage disease type I

ICD 10: E74.0

Synonyms: von Gierke disease, Glycogenosis type I, Glucose-6-phosphatase deficiency, GSD-I

 

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Glycogen storage disease type I

Folder Goldenhar syndrome

Disease name: Goldenhar syndrome

ICD 10: Q87.0

SynonymsOculo-Auriculo-Vertebral (OAV) syndrome / sequence, Facio-Auriculo-Vertebral syndrome, Goldenhar-Gorlin syndrome

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Goldenhar syndrome

Folder Gomez-Lopez-Hernandez syndrome

Disease name: Gomez-Lopez-Hernandez syndrome

ICD 10: Q07.8

Synonyms: Cerebellotrigeminal dermal dysplasia

 

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Gomez-Lopez-Hernandez syndrome

Folder Goodpasture syndrome

Disease name: Goodpasture syndrome

ICD 10: M31.0

Synomyms: Goodpasture’s syndrome (GS), anti-glomerular basement membrane disease, crescentic glomerulonephritis type 1, GPS

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Goodpasture Syndrom

Folder Haemophilia A

Disease name: Haemophilia A

ICD 10: D66

Synonyms: Classic haemophilia or Factor VIII deficiency

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s106

Folder Hallermann-Streiff syndrome

Disease name: Hallermann-Streiff syndrome

ICD 10: - 

Synonyms: Francois dyscephaly syndrome, oculo mandibulo dyscephaly

 

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Hallermann-Streiff syndrome

 

The update 2019 version you find here:

Folder Hamamy syndrome

Disease name:   Hamamy syndrome

ICD 10: -

OMIM  611175

Synonyms:  Craniofacial dysplasia-osteopenia syndrome

 

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s191

Folder Harlequin ichthyosis

Disease name: Harlequin ichthyosis

ICD 10: Q80.4

Synonyms: Harlequin baby, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus, Ichthyosis congenita gravior

 

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Harlequin ichtyosis

Folder Hereditary spastic paraplegia

Disease name:   Hereditary spastic paraplegia (HSP)

ICD 10:  G11.4

Synonyms:  Strumpell-Lorrain disease (designating one type of HSP called SPG4); Familial spastic paraplegia

 

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DOI: 10.19224/ai2020.s290

Folder Hermansky-Pudlak syndrome

Disease name: Hermansky-Pudlak syndrome

ICD10: E70.3

Synonyms: /

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Folder Homocystinuria

Disease name: Homocystinuria

ICD 10: E72.11

Synonyms: Homocystinemia, classical homocystinuria, cystathionine b-synthase

deficiency, CBS deficiency
 
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Homocystinuria

 
 

Folder Hunter syndrome

Disease name: Hunter syndrome

ICD 10: E76.1

Synonyms: Mucopolysaccharidosis, Type II; MPS2; Iduronate-2-sulfatase deficiency; IDS deficiency; sulfo-iduronate sulfatase deficiency; SIDS deficiency

 

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Hunter syndrome

Folder Huntington’s disease

Disease name: Huntington’s disease

ICD 10: G10
 
Synonyms: Huntington’s chorea
 
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Folder Hurler syndrome

Disease name: Hurler syndrome

ICD 10: E 76.0

Synonyms: Mucopolysaccharidosis (MPS) I-H, Alpha-L-Iduronidase Deficiency; Pfaundler-Hurler Syndrome

 

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Hurler syndrome

Folder Hypoplastic left heart syndrome

Disease name: Hypoplastic left heart syndrome

ICD 10: Q23.4

Synonyms: HLHS

 

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DOI: 10.19224/ai2017.s445

Folder Immune thrombocytopenia

Disease name: Immune thrombocytopenia (ITP)

ICD 10: D69.3

Synonyms: Immune thrombocytopenic purpura, idiopathic thrombocytopenic purpura

 

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DOI: 10.19224/ai2017.s458

Folder Inclusion body myositis

Disease name: Inclusion body myositis
 
ICD 10: M60.8
 
Synonyms: Sporadic inclusion body myositis
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Inclusion body myositis

Folder Infantile neuroaxonal dystrophy

Disease name:   Infantile neuroaxonal dystrophy

ICD 10:  G23.0

Synonyms:  INAD, NBIA2, Phospholipase A2-associated neurodegeneration (PLAN), Seitelberger Disease, Neurodegeneration with brain iron accumulation A

 

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DOI: 10.19224/ai2020.s343

Folder Insulinoma

Disease name:  Insulinoma

ICD 10:  D13.7 (benign), C25.4 (malignant), D37.8 (uncertain behaviour)

Synonyms: none

 

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DOI: 10.19224/ai2020.s349

Folder Jarcho-Levin syndrome

Disease name:  Jarcho-Levin syndrome

ICD 10:  Q76

Synonyms:  Spondylocostal dysostosis

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Folder Joubert syndrome

Disease name: Joubert syndrome

ICD 10: Q04.3

Synonyms: CPD IV, Cerebelloparenchymal disorder IV, Classic Joubert syndrome, Joubert syndrome type A, Pure Joubert syndrome, Vermis-Agenesia, Joubert-Boltshauser syndrom

 

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Joubert syndrome

 

The update 2019 version you find here:

Folder Kabuki syndrome

Disease name: Kabuki syndrome

ICD 10: Q87.0

Synonyms: Kabuki make-up syndrome, Niikawa-Kuroki syndrome

 

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Kabuki syndrome

Folder Kartagener syndrome

Disease name: Kartagener syndrome
 
ICD 10: Q89.3
 
Synonyms: sinusitis-bronchiectasis-situs inversus (triad) syndrome
 
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Folder Kasabach-Merritt syndrome

Disease name: Kasabach-Merritt syndrome

ICD 10: D75.8

Synonyms: haemangioma-thrombopenia syndrome, Kaposiform haemangioendothelioma
 
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Kasabach-Merritt syndrome

 

The update 2019 version you find here:

Folder Kearns-Sayre syndrome

Disease name: Kearns-Sayre syndrome
 
ICD 10: H49.8
 
Synonyms: chronic progressive external ophthalmoplegia and myopathy, chronic
progressive external ophthalmoplegia with ragged red fibers, CPEO with myopathy, CPEOwith ragged red fibers, KSSS (Kearns Sayre Shy syndrome), mitochondrial cytopathy,occulocraniosomatic syndrome (absolute),ophthalmoplegia, pigmentary degeneration of the retina and cardiomyopathy, ophthalmoplegia plus syndrome
 
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Kearns-Sayre syndrome

Folder Kennedy disease

Disease name:   Kennedy disease

ICD 10:  G 12.1

Synonyms:  Spinal and bulbar muscular atrophy, x-linked spinal and bulbar muscular atrophy, bulbospinal muscular atrophy

 

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s205

Folder Kikuchi-Fujimoto disease

Disease name: Kikuchi-Fujimoto disease

ICD 10: I88.1 Lymphadenitis cervical, non specified site, chronic or subacute

Synonyms: Histiocytic necrotizing lymphadenitis, Kikuchi disease, Kikuchi-Fujimoto
disease, Kikuchi lymphadenitis, lymphadenopathy, KFD

 

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DOI: 10.19224/ai2017.s482

Folder Kleefstra syndrome

Disease name:  Kleefstra Syndrome

ICD 10:  Q93.5

Synonyms:  9q subtelomeric deletion syndrome, 9q- syndrome, 9q34.3 deletion syndrome, 9q34.3 microdeletion syndrome, chromosome 9q deletion syndrome

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s358

Folder Klippel-Feil syndrome

Disease name: Klippel-Feil syndrome

ICD 10: Q76.1

Synonyms: Cervical vertebral fusion, Congenital cervical synostosis, Isolated Klippel-Feil syndrome, KFS

 

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Klippel-Feil syndrome

Folder Klippel-Trénaunay syndrome

Disease name: Klippel-Trénaunay syndrome
 
ICD 10: Q 87.2
 
Synonyms: Angio osteohypertrophy, naevus vasculosus osteohypertrophicus, capillary venous lymphatic malformation (CLVM)
 
Citable version for download in the Journal A&I www.ai-online.info:
 
 
 

Folder Lamellar ichthyosis

Disease name: Lamellar ichthyosis

ICD 10: Q80.2

Synonyms: Autosomal recessive congenital ichthyosis, bathing-suit ichthyosis (limited to the trunk)

 

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Lamellar ichthyosis

Folder Larsen syndrome

Disease name: Larsen syndrome
 
ICD 10: OMIM 150250
 
Synonyms: -
 
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DOI: 10.19224/ai2022.s151

Folder Lennox-Gastaut syndrome

Disease name: Lennox-Gastaut syndrome

ICD 10: G40.4

Synonyms: not reported

 

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DOI: 10.19224/ai2017.s491

Folder Lenz-Majewski hyperostotic dwarfism

Disease name: Lenz-Majewski hyperostotic dwarfism
 
ICD 10: Q 87.1
 
Synonyms: Dystrophinopathy
 
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Lenz-Majewski hyperostotic dwarfism

Folder Leprosy

Disease name:   Leprosy

ICD 10:  A30

Synonyms:  –

 

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DOI: 10.19224/ai2020.s365

Folder Liddle’s syndrome

Disease name: Liddle’s syndrome

ICD 10: I15.1

Synonyms: Pseudohyperaldosteronism

 

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Liddle's syndrome

Folder Limb-girdle muscular dystrophy

Disease name: Limb-girdle muscular dystrophy

ICD 10: G71.0

Synonyms: -

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Limb-girdle muscular dystrophy

Folder Lowe syndrome

Disease name: Lowe syndrome
 
ICD 10: E72.03
 
Synonyms: OCRL, oculo-cerebro-renal syndrome, oculo-cerebro-renal syndrome of Lowe, Lowe-Terrey-MacLachan syndrome
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2017.s497

Folder Lujan-Fryns syndrome

Disease name:   Lujan-Fryns syndrome

ICD 10:  Q87.8

Synonyms:  Lujan syndrome, X-linked mental retardation with marfanoid habitus, XLMR with marfanoid habitus

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s372

Folder Macrophage activation syndrome

Disease name: Macrophage activation syndrome

ICD 10: D76.2

Synonyms: haemophagocytic lymphohistiocytosis, reactive haemophagocytic syndrome, hemophagocytic syndrome

 

Citable version of 2015 for download in the Journal A&I www.ai-online.info:
 

Macrophage activation syndrome

 

The update 2019 version you find here:

Folder Madelung disease

Disease name:  Madelung's disease

ICD 10:  E88.89

Synonyms:  Launois-Bensaude syndrome, Benign symmetrical lipomatosis, Multiple symmetrical lipomatosis

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Madelung disease

Folder Malignant hyperthermia

Disease name: Malignant hyperthermia

ICD 10: T88.3

Synonyms: Malignant hyperpyrexia

 

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Malignant hyperthermia

 

The update 2019 version you find here:

Folder Maple syrup urine disease

Disease name: Maple syrup urine disease

ICD 10: E71.0

Synonyms: MSUD, branched-chain ketoaciduria, branched-chain-alpha-ketoacid

dehydrogenase deficiency, BCKD deficiency, BCKDH deficiency, ketoacid decarboxylase deficiency
 
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Maple syrup urine disease

Folder Marfan syndrome

Disease name: Marfan syndrome

ICD 10: Q87.4

Synonyms: Marfan's syndrome

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Marfan syndrome

Folder Maroteaux-Lamy syndrome

Disease name: Maroteaux Lamy syndrome

ICD 10: E76.29

Synonyms: Mucopolysaccharidosis Type VI; MPS VI; arylsulfatase B (ARSB) deficiency

 

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2017.s505

Folder McArdle disease

Disease name: McArdle Disease
 
ICD 10: ICD 10 E74.04
 
Synonyms: Glycogen storage disease type 5, GSD type 5, GSDV, Glycogenosis type V, Myophosphorylase deficiency, McArdle Disease, Muscle Glycogen Phosphorylase Deficiency
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s378

Folder McCune-Albright syndrome

Disease name: McCune-Albright syndrome
 
ICD 10: Q78.1
 
Synonyms: Polyostotic fibrous dysplasia, MAS, Albright syndrome, osteitis fibrosa
disseminata, PFD, precocious puberty with polyostotic fibrosis and abnormal pigmentation, POFD
 
Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2017.s515

Folder Merosin-deficient congenital muscular dystrophy

Disease name: Merosin-deficient congenital muscular dystrophy

ICD 10: G71.0

Synonyms: Complete merosin deficient congenital muscular dystrophy, Congenital muscular dystrophy with primary laminin 2 (merosin) deficiency, Merosin negative congenital muscular dystrophy, LAMA-2 related muscular dystrophy (early and late onset LAMA-2 deficiency), Congenital muscular dystrophy, type 1A, MDCA1A
 
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Merosin-deficient congenital musculardystrophy

 

The update 2019 version you find here:

Folder Metachromatic leukodystrophy

Disease name:  Metachromatic leukodystrophy

ICD 10:  E75.25

Synonyms:  - MLD

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Metachromatic leukodystrophy

Folder Methylmalonic acidemia

Disease name: Methylmalonic acidemia

ICD 10: E71.1

Synonyms: Methylmalonic aciduria, MMA, isolated methylmalonic acidemia

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s159

Folder Miller-Dieker syndrome

Disease name: Miller-Dieker syndrome
 
ICD 10: Q93.88
 
Synonyms: 17p13.3 deletion syndrome
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2017.s591

Folder Mitochondrial disorders

Disease name: Mitochondrial Cytopathy, Mitochondrial Myopathy, Mitochondrial

Encephalomyopathy


ICD 10: G731.81

Synonyms: Mitochondrial diseases with typical combinations of clinical symptoms: Kearns-Sayre syndrom, progressive external ophthalmoplegia, Pearson syndrome, myoclonic epilepsy with ragged red fibers (MERFF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), neuropathy with ataxia and retinitis pigmentosa, maternally inherited Leigh syndrome, Leber's hereditary optic neuropathy, Leigh disease, POLG1 associated disorders, mtDNA depletion syndromes

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2017.s125

Folder Moebius syndrome

Disease name: Moebius syndrome

ICD 10: Q87.0

Synonyms: Congenital facial diplegia (Congenital oculofacial paralysis, Mӧbius syndrome, Moebius sequence, MBS

Citable version for download in the Journal A&I www.ai-online.info:

 

Moebius syndrome

Folder Morquio syndrome

Disease name: Morquio Syndrome

ICD 10: E76.219

Synonyms: Morquio-Brailsford Syndrome; Mucopolysaccharidosis IV; MPS IV type IVA
 
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Morquio syndrome

 

The update 2019 version you find here:

Folder Mounier-Kuhn syndrome

Disease name: Mounier-Kuhn syndrome

ICD 10: Q32.4; Q32.1

- With bronchiectasis: J47
- Exacerbation (acute): J47
- Lower respiratory infection: J47
- Acquired: J98.09 - With bronchiectasis: J47
- With exacerbation (acute): J47
- With lower respiratory infection: J47.0

Synonyms: Tracheobronchomegaly, trachiectasis, tracheobronchomalacia, and multiple tracheal diverticula.

Citable version for download in the Journal A&I www.ai-online.info:

 

Mounier-Kuhn syndrome

Folder Moyamoya disease

Disease name: Moyamoya disease

ICD 10: I67.5

Syonyms: Moyamoya means "something hazy, like a puff of cigarette smoke" in Japanese. It is also referred to as progressive intracranial occlusive arteriopathy. 

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Moyamoya disease

Folder Mucolipidosis type 2 and 3

Disease name: Mucolipidosis Type 2 and 3

ICD 10: E77.0

Synonyms: Mucolipidosis type 2 - I-cell disease, N-acetyl-glucosamine 1-phosphotransferase deficiency, Mucolipidosis type 3 - Pseudo-Hurler polydystrophy

 

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Mucolipidosis type II and III

 

The update 2019 version you find here:

Folder Multiminicore disease

Disease name: Multiminicore disease

ICD 10: G71.2

Synonyms: MmD, Multi-minicore disease, Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore disease with external opthalmoplegia, SEPN1-related congenital muscular dystrophy, rigid spine syndrome, Rigid Spina Muscular Dystrophy.

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Multiminicore disease

 

The update 2019 version you find here:

Folder Multiple myeloma

Disease name:   Multiple myeloma

ICD 10:  C90.0

Synonyms:  Kahler's disease, Medullary plasmacytoma, Myelomatosis, Plasma cell myeloma

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s386

Folder Myasthenia gravis

Disease name: Myasthenia gravis (MG)
 
ICD 10: G70.0
 
Synonyms: Myasthenia gravis (juvenile and adult form) autoimmune (receptor-binding antibodies)
 
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Myasthenia gravis

 

The update 2019 version you find here:

Folder MYH9-related disease

Disease name:   MYH9 related disease (OMIM 600208)

ICD 10:  D69.4
 

Synonyms:  May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Sebastian syndrome, MYH9 related thrombocytopenia, MYH9 related syndrome, MYH9-related syndromic thrombocytopenia, MYH9-related disorder, MYH9-related disease (MYH9-RD).

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MYH9-related disease

Folder Myotonic dystrophies type 1 and 2

Disease name: Myotonic dystrophies type 1 and 2

ICD 10: G71.1

Synonyms: Curshmann-Batten-Steinert disease, Proximal myotonic myopathy (PROMM)

Citable version for download in the Journal A&I www.ai-online.info:

 

Myotonic dystrophies type 1 and 2

Folder Nager syndrome

Disease name:   Nager syndrome

ICD 10:  Q75.4

OMIM:  154400

Synonyms:  Acrofacial dysostosis 1 (AFD1), Nager acrofacial dysostosis, Preaxial acrofacial dysostosis, Mandibulofacial dysostosis with preaxial limb anomalies

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s561

Folder Nemaline myopathy

Disease name:  Nemaline myopathy

ICD 10:  G71.2
OMIM:  161 800, 256 030, 605 355

Synonyms:  NM, rod myopathy, congenital rod disease, nemaline rod myopathy

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s228

Folder Neurofibromatosis type 2

Disease name: Neurofibromatosis type 2

ICD 10: Q85.02

Synonyms: NF2

Citable version for download in the Journal A&I www.ai-online.info:

 

Neurofibromatosis type 2

Folder Neuromyelitis optica spectrum disorder

Disease name: Neuromyelitis optica spectrum disorder

ICD 10: G36.0

Synonyms: Devic's Disease, Devic's Syndrome, Neuromyelitis optica, NMO, NMOSD

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2017.s597

Folder Neuromyotonia

Disease name: Neuromyotonia

ICD10: G71.19

Synonyms: Isaac's syndrome, Continuous mascle fibre acitivity syndrome, Isaacs-Mertens syndrome, Quantal-Aquander syndrome, Gamstorp-Wohlfar syndrome, pseudomyotonia

Citable version for download in the Journal A&I www.ai-online.info:

 

Neuromyotonia

Folder Neuronal ceroid lipofuscinosis

Disease name:  Neuronal ceroid lipofuscinoses (NCL)

ICD 10: E75.4

Synonyms: Historically, single NCL forms have been classified according to infantile, lateinfantile, juvenile or adult onset and associated with names of investigators such as Santavuori-Haltia, Jansky-Bielschowsky, Batten, Spielmeyer-Vogt, Kufs

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2017.s134

Folder Niemann-Pick Type C

Disease name: Niemann-Pick type C
 
ICD 10: E75.242
 
Synonyms: Juvenile Niemann-Pick disease
 
Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2022.s236

Folder Noncompaction cardiomyopathy

Disease name: Noncompaction cardiomyopathy

ICD10: 142.8 (unclassified cardiomyopathy)

Synonyms: Non-compaction cardiomyopathy, Lef ventricle noncompaction cardiomyopathy, Noncompaction/hypertrabeculation cardiomyopathy, Spongiform cardiomyopathy.

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Noncompaction cardiomyopathy

Folder Noonan syndrome

Disease name: Noonan syndrome

ICD 10: Q87.1

Synonyms: -

Citable version for download in the Journal A&I www.ai-online.info:

 

Noonan syndrome

Folder Oculo-ectodermal syndrome

Disease name: Oculo-ectodermal syndrome

OMIM: 600268

Synonyms: Aplasia cutis congenita-epibulbar dermoids syndrome

Citable version for download in the Journal A&I www.ai-online.info:

 

Oculo-ectodermal syndrome

Folder Opitz G/BBB syndrome

Disease name: Opitz G/BBB syndrome

ICD 10: Q87.8

Synonyms: Hypertelorism-hypospadias syndrome, hypospadias-dysphagia syndrome, OpitzBBB/G syndrome, Opitz BBBG syndrome, Opitz-Frias syndrome, Opitz G syndrome, Opitz syndrome, hypertelorism with esophageal abnormalities and hypospadias

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2017.s605

Folder Osteogenesis imperfecta

Disease name: Osteogenesis imperfecta

ICD 10: Q78.0

Synonyms: brittle bone disease, Lobstein syndrome

Citable version for download in the Journal A&I www.ai-online.info:

 

Osteogenesis imperfecta

 

The update 2019 version you find here:

Folder Osteopetrosis

Disease name: Osteopetrosis

ICD 10: Q78.2

Synonyms: Marble bone disease, Albers-Schönberg disease, osteosclerosis, fragilitas generalisata, osteopetrosis generalisata

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2017.s611

Folder Pallister-Hall syndrome

Disease name:  Pallister-Hall syndrome

ICD 10:  D33.0

Synonyms:  Hypothalamic hamartoblastoma syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s242

Folder Pantothenate kinase-associated neurodegeneration

Disease name: Pantothenate kinase-associated neurodegeneration 

ICD 10: G23.0

Synonyms: Hallervorden-Spatz disease; neurodegeneration with brain iron accumulation type 1

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s392

Folder Paraganglioma & pheochromocytoma

Disease name: Paraganglioma & pheochromocytoma
 
ICD 10: D35.00 benign phaeochromocytoma; C74.1 malignant phaeochromocytoma;
D44.7 paraganglioma
 
Synonyms: Chromaffinoma, Chromaffin paraganglioma, Chromaffin tumor, intra-medullary paraganglioma, Chromaffin cell tumor
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2017.s619

Folder Paroxysmal nocturnal haemoglobinuria

Disease name: Paroxysmal nocturnal haemoglobinuria (PNH)

ICD 10: D59.6

Synonyms: Marchiafava-Micheli disease; PNH

Citable version for download in the Journal A&I www.ai-online.info:
 
DOI: 10.19224/ai2022.s248

Folder Pena-Shokeir syndrome

Disease name: Pena-Shokeir syndrome

ICD 10: Q87.8

Synonyms: Pena-Shokeir syndrome, Type I (OMIM 208150). Fetal akinesia sequence. Arthrogryposis multiplex congenita with pulmonary hypoplasia

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2017.s628

Folder Pfeiffer syndrome

Disease name: Pfeiffer syndrome

ICD 10: Q87.0

Snyonyms: ACS5, Acrocephalosyndactyly type V, noack syndrome, cranio-facialdermatological dysplasia

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s001

Folder Phelan-McDermid syndrome

Disease name:   Phelan-McDermid syndrome

ICD 10:  Q93.5

Synonyms:  22q13.3 Deletion syndrome, Chromosome 22q13.3 Deletion syndrome, Deletion 22q13 syndrome. Monosomy 22q13.3

Citable version for download in the Journal A&I www.ai-online.info:

 

Phelan-McDermid syndrome

Folder Phenylketonuria and other hyperphenylalaninemias

Disease name:  Phenylketonuria

ICD 10:  E70.0, E70.1

OMI: 260600, 260630

GARD 7383

Synonyms: Phenylalanine hydroxylase deficiency, BH4 deficiency (dihydropterine reductase deficiency), PKU, Fǿlling disease, Phenylpyruvic oligophrenia

Citable version for download in the Journal A&I www.ai-online.info:

 

Phenylketonuria

Folder Phocomelia

Disease name: Phocomelia
 

ICD 10: Q71.1 (phocomelia upper limb), Q72.1 (phocomelia lower limb), Q73.1 (phocomelia unspecified limb)

Synonyms and associated diseases: Roberts SC-Phocomelia Syndrome, Roberts Tetraphocomelia Syndrome, SC Phocomelia Syndrome, Pseudo-thalidomide Syndrome, Tetraphocomelia Syndrome, DK Phocomelia, Fuhrman syndrome, Holt-Oram syndrome, Steinfeld syndrome

 

Citable version for download in the Journal A&I www.ai-online.info:

 

Phocomelia

Folder Pierre Robin sequence

Disease name:   Pierre Robin sequence

ICD 10:  Q87.0

Synonyms:  Pierre Robin Syndrome, Anomalad, Complex, Deformity, Triad

Citable version for download in the Journal A&I www.ai-online.info:

 

Pierre-Robin Sequence

Folder Pompe disease

Disease name: Pompe disease

ICD 10: E74.0

Synonyms: Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease type 2, GSD type 2, acid maltase deficiency, alpha–1, 4–glucosidase acid deficiency, glycogenosis due to acid maltase deficiency, glycogenosis type 2, acid alphaglucosidase (GAA) deficiency, GAA deficiency

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s015

Folder Porphyria

Disease name: Porphyria

ICD 10: E80.0; E80.1; E80.2

Synonyms: ALA dehydratase deficiency porphyria (ADP), Acute intermittent porphyria (AIP), Congenital erythopoietic porphyria (CEP), Erythropoietic protoporphyria (EPP), Hereditary coproporphyria (HCP) Porphyria cutanea (PCT), Plumboporphyria (PP) Variegate porphyria (VP), X-linked protoporphyria (XLP)

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s026

Folder Prader-Willi syndrome

Disease name: Prader-Willi syndrome

ICD 10: Q87.1

Synonyms: Prader-Labhardt-Willi syndrome

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s077

Folder Preeclampsia

Disease name:   Preeclampsia

ICD 10:  014.0, 014.1, 014,2, 014.9

Synonyms:  Preeclampsia, Pre-eclampsia, Toxaemia of pregnancy, Toxaemia of pregnancy, Toxaemia

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s567

Folder Propionic acidemia

Disease name:  Propionic acidemia

ICD 10:  E71.121

Synonyms:  Propionyl-CoA carboxylase deficiency, PCC deficiency, PA, PCCA-related propionic academia, PCCB-related propionic acidemia

Folder Proteus syndrome

Disease name: Proteus Syndrome

ICD 10: Q87.3
 
Synonyms: Wiedemann Syndrome, Elephant man disease
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s085

Folder PURA syndrome

Disease name:   PURA Syndrome

ICD 10:  Q93.5

Synonyms:  PURA-related neurodevelopmental disorder, 5q31.3 deletion syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s257

Folder Recessive myotonia congenita

Disease name: Recessive myotonia congenita

ICD 10: G71.1

Synonyms: Becker’s disease

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s545

Folder Rett syndrome

Disease name: Rett syndrome 

ICD 10: F84.2

Synonyms: Autistic disorder (F84.0)

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s117

Folder ROHHAD

Disease name: ROHHAD

ICD 10: -

Synonyms: Rapid onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s125

 

The update 2019 version you find here:

Folder Rubinstein-Taybi syndrome

Disease name:  Rubinstein-Taybi syndrome

ICD 10:  Q87.2

Synonyms:  Michail-Matsoukas-Theodorou-Rubinstein-Taybi syndrome, Broad thumb-hallux syndrome, Rubinstein syndrome
Citable version for download in the Journal A&I www.ai-online.info:
 
DOI: 10.19224/ai2022.s263

Folder Russel-Silver syndrome

Disease name: Russel-Silver syndrome

ICD 10: Q87.1

Synonyms: Silver-Russell-Syndrome

Russell-Silver dwarfism

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s433

Folder Saethre-Chotzen syndrome

Disease name: Saethre-Chotzen syndrome
 
ICD 10: Q87.0
 
Synonyms: Acro-cephalo-syndactyly (ACS) syndrome, ACS III
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s438

Folder Sanfilippo disease

Disease name: Sanfilippo disease

ICD 10: E76.2

Synonyms: MPS III, Sanfilippo syndrome, Mucopolisaccaridosi type III

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s444

Folder Schwartz-Jampel syndrome

Disease name:   Schwartz–Jampel syndrome

ICD 10: G71.13

Synonyms: chondrodystrophic myotonia, myotonic chondrodystrophy

 

Citable version for download in the Journal A&I www.ai-online.info:

 

Schwartz-Jampel-Syndrom

Folder Scimitar syndrome

Disease name:   Scimitar syndrome

ICD 10: Q26.8

Synonyms: Congenital Pulmonary Venolobar Syndrome, Pulmonary Venous Return Anomaly, Partial/Total Anomalous Pulmonary Venous Return (P/TAPVR)

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s350

Folder Segawa’s dystonia

Disease name: Segawa’s dystonia

ICD 10: G24.8

Synonyms: Segawa’s disease, Dopamine-responsive dystonia (DRD),

Hereditary progressive dystonia with diurnal fluctuation, DYT5a dystonia, GTP
cyclohydrolase 1-deficient dopa-responsive dystonia
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s450

Folder Sheldon-Hall syndrome

Disease name:   Sheldon-Hall syndrome

ICD 10: Q74.3

Synonyms:  Freeman-Sheldon variant, distal arthrogryposis multiplex congenita, distal arthrogryposis type 2B, distal arthrogryposis multiplex congenita type II with craniofacial abnormalities

Folder Shwachman-Diamond syndrome

Disease name:  Shwachman–Diamond syndrome
 
ICD 10:  Q45.3
 
Synonyms:  Shwachman Syndrome, Shwachman-Bodian-Diamond Syndrome, Shwachman-Diamond-Oski syndrome, Shwachman-Bodian syndrome, Pancreatic Insufficiency and congenital lipomatosis of pancreas,Metaphyseal chondrodysplasia (Shwachman-Diamondtype), SDS
 
Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s001

Folder Sickle cell disease

Disease name: Sickle Cell Disease

ICD 10: D57.1

Synonyms: Sickle Cell Anemia, Sickle-Hemoglobin C Disease, Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s485

Folder Situs inversus totalis

Disease name:  Situs inversus totalis

ICD 10:  Q89.3

Synonyms:  Situs inversus, Situs inversus viscerum, Complete situs inversus, Complete situs inversus viscerum

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2021.s211

Folder Sjögren-Larsson syndrome

Disease name:   Sjögren-Larsson syndrome

ICD 10: Q87.1

Synonyms: Fatty aldehyde dehydrogenase deficiency; Fatty acid alcohol oxidoreductase deficiency

 

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s007

Folder Smith-McCort dysplasia

Disease name: Smith-McCort Dysplasia (SMC)

ICD 10: -

Synonyms: 
Smith-McCort dwarfism, Orpha no: ORPHA178355

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s494

Folder Sotos syndrome

Disease name: Sotos syndrome

ICD10: Q87.3

Synonyms: Cerebral gigantism syndrome, Malan syndrome (Sotos syndrome 2)

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s350

Folder Spinal muscular atrophy

Disease name: Spinal muscular atrophy

ICD 10:
G12.0 Infantile spinal muscle atrophy type I
G12.1 Spinal muscle atrophy childhood form type II
G12.1 Spinal muscle atrophy juvenile form type III

Synonyms: 

Spinal muscle atrophy type l: Werdnig-Hoffmanns disease (SMA l)
Spinal muscle atrophy type ll: Dubowitz disease (SMA ll)
Spinal muscle atrophy type lll: Kugelberg-Welanders disease (SMA lll)

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2021.s221

Folder Stickler syndrome

Disease name: Stickler syndrome
 
ICD 10: Q87.5
 
Synonyms: Marshall-Stickler, Wagner-Stickler hereditary arthro-ophthalmopathy
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s500

Folder Stiff person syndrome

Disease name: Stiff person syndrome (SPS) 


ICD 10: G25.8


Synonyms: Moersch and Woltman syndrome, stiff limb syndrome, stiff trunk syndrome, PERM (progressive encephalomyelitis with rigidity and myoclonus)

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s510

Folder Stress cardiomyopathy

Disease name: Stress cardiomyopathy
 
ICD 10: I42
 
Synonyms: Ballooning cardiomyopathy, broken heart syndrome
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s586

Folder Sturge-Weber syndrome

Disease name: Sturge-Weber syndrome

ICD 10: Q85.8

Synonyms:  Dmitri disease, encephalofacial angiomatosis, enchephalotrigeminal

angiomatosis, fourth phacomatosis, leptomeningeal angiomatosis, meningeal capillary angiomatosis, Sturge-Kalischer-Weber syndrome, SWS, SWS type 1-facial and leptomeningeal angiomas, SWS type 2 - facial angioma alone - no CNS involvement, SWS type 3 - isolated leptomeningeal angiomas
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s596

Folder Stüve-Wiedemann syndrome

Disease name: Stüve-Wiedemann syndrome

ICD 10: Q78.8

Synonyms: In older literature also known as Schwartz-Jampel type 2 syndrome

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s637

Folder Systemic mastocytosis

Disease name:  Systemic mastocytosis (SM)

ICD 10:  C96.2

Synonyms:  -

 

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2021.s266

Folder Systemic onset juvenile idiopathic arthritis

Disease name: Systemic onset juvenile idiopathic arthritis
 
ICD 10: M08.2
 
Synonyms: SoJiA, systemic juvenile idiopathic arthritis, adolescent Still`s disease
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2021.s283

Folder Systemic sclerosis

Disease name: Systemic sclerosis

ICD 10: M34.0

Synonyms: Progressive systemic sclerosis, Scleroderma, CREST syndrome

 

Citable version for download in the Journal A&I www.ai-online.info:

 

Systemic sclerosis

Folder TAR-syndrome

Disease name: Thrombocytopenia-absent radius (TAR) syndrome

ICD 10: Q87.2

Synonyms: Absent radii and thrombocytopenia, Thrombocytopenia absent radii,

Thrombocytopenia absent radius syndrome, Radial Aplasia Amegakaryocytic
Thrombocytopenia, Radial Aplasia Thrombocytopenia Syndrome, Radial Aplasia-
Amegakaryocytic Thrombocytopenia, TAR Syndrome
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s664

Folder Tetralogy of Fallot

Disease name: Tetralogy of Fallot

ICD 10: Q21.3

Synonyms: Fallot's tetralogy

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2018.s654

Folder Timothy syndrome

Disease name: Timothy syndrome

ICD 10: I45.8

Synonyms: LQT8, Long QT syndrome type 8, Long QT syndrome-syndactly syndrome

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s018

Folder Tracheal agenesis

Disease name: Tracheal agenesis, Tracheal atresia

ICD 10: Q32.4

Synonyms: -

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s027

Folder Transverse myelitis

Disease name: Transverse myelitis

ICD 10: G37.3

Synonyms: -

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s364

Folder Treacher Collins syndrome

Disease name: Treacher Collins syndrome

ICD 10:  Q75.4

Synonyms: Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s371

Folder Trisomy 18

Disease name: Trisomy 18

ICD 10: Q91.1

Synonyms: Edwards syndrome; trisomy E syndrome; chromosome 18, trisomy 18 complete; complete trisomy 18 syndrome
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s075

Folder Tuberous sclerosis complex

Disease name:  Tuberous sclerosis complex

ICD 10: Q85.1

Synonyms:  Tuberous sclerosis, Bourneville disease, Epiloia

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s378

Folder Urea cycle disorders

Disease name:  Urea Cycle Disorders

ICD 10:  E72.2

Synonyms:  Disorders of Urea cycle metabolism, UCDs, Hyperammonaemia

Disease name:           N-acetylglutamate synthase deficiency                ICD 10: E72.2
                                   Synonyms: NAGS deficiency, NAGSD

Disease name:           Carbamylphosphate synthetase deficiency          ICD 10: E72.2
                                   Synonyms: CPS deficiency, CPS 1 deficiency,
                                   Carbamylphosphate synthetase 1 deficiency, CPS1D

Disease name:           Ornithine Transcarbamylase Deficiency               ICD 10: E72.4
                                   Synonyms: OTC deficiency, OTCD

Disease name:           Citrullinemia                                                             ICD 10: E72.2
                                   Synonyms: Arginosuccinate Synthetase Deficiency,
                                   ASSD

Disease name:           Argininosuccinate lyase deficiency                       ICD 10: E72.2
                                   Synonyms: Argininosuccinic aciduria, ASL deficiency,
                                   ASLD

Disease name:           Argininaemia                                                            ICD 10: E72.2
                                   Synonyms: Arginase deficiency, Hyperargininemia,
                                   ARG1D

Disease name:           Hyperornithinemia-hyperammonemia-homocitrullinuria OMIM: 230 970
                                   Synonyms: HHH syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s291

Folder VACTERL association

Disease name: VACTERL association 

ICD 10: Q87.2

Synonyms: VATERS association, VACTERLS association, VACTERL association

(ORPHA887), VATER association (ORPHA887), VATER syndrome, ORPHA887
 
Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s083

Folder Van der Woude syndrome

Disease name:  Van der Woude syndrome

ICD 10:  Q38.0

Synonyms: VWS, Cleft lip/palate with mucous cysts of lower lip, Lip-pit syndrome, van der Woude syndrome1 (VWS1), van der Woude syndrome2 (VWS2)

Folder Vein of Galen malformation

Disease name: Vein of Galen malformation

ICD10: Q28.2

Synonyms: Great cerebral vein, great vein of Galen, vein of Galen malformation, vein of Galen aneurysmal malformations (VGAMs)

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s391

Folder Von Hippel-Lindau disease

Disease name:  Von Hippel-Lindau disease

ICD 10:  Q85.8

Synonyms:  Morbus Hippel-Lindau, Familial cerebelloretinal angiomatosis, Lindau disease, VHL, VHLD

 

Citable version for download in the Journal A&I www.ai-online.info:

 

von Hippel-Lindau-Syndrom

Folder Von Willebrand disease

Disease name: Von Willebrand disease

ICD 10: D68.0

Synonyms: Inherited bleeding disorder

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s119

Folder Waardenburg syndromes

Disease name: Waardenburg syndromes

ICD 10: Q87.8

Synonyms: Waardenburg syndrome type I, type II, type III and type IV

 

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s304

Folder Walker-Warburg syndrome

Disease name: Walker-Warburg syndrome

ICD 10: Q04.3

Synonyms: Warburg syndrome, HARD (hydrocephalus, agyria, retinal dysplasia) or HARDE (E for encephalocele) syndrome, Chemke syndrome, Cerebro-ocular dysplasia-muscular dystrophy syndrome, cerebro-ocular dysgenesis, Pagon syndrome.
Muscle Eye Brain disease shares many characteristics with Walker-Warburg syndrome and has sometimes been used as synonym. However, most authors consider the two entities as different syndromes. Lissencephaly type II is also sometimes used as synonym, but is actually a broader term applying also to other similar syndromes with cobblestone lissencephaly.

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s130

Folder Welander distal myopathy

Disease name: Welander distal myopathy

ICD 10: G71.0

Synonyms: late adult onset type 1 distal myopathy; distal myopathy, Swedish type

Citable version for download in the Journal A&I www.ai-online.info:

 

Welander distal myopathy

 

The update 2019 version you find here:

Folder Williams syndrome

Disease name:   Williams syndrome

ICD 10:  ./.

Synonyms:  Williams-Beuren syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s320

Folder Wolf-Hirschhorn syndrome

Disease name: Wolf-Hirschhorn syndrome

ICD 10: Q 93.3
OMIM 194190, 602618, 602952, 604407, 605032, 605032, 605830, 606026


Synonyms: 4p deletion syndrome, 4p-syndrome, del (4p) syndrome, monosomy 4p, partial monosomy 4p, WHS

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2019.s554

Folder Xeroderma pigmentosum

Disease name:   Xeroderma Pigmentosum (XP)

ICD 10:  Q82.1

Synonyms:  Kaposi disease, Ichthyosis; individuals suffering from this disease are often referred to as children of the night or moon people

Citable version for download in the Journal A&I www.ai-online.info:

 

DOI: 10.19224/ai2020.s006

Folder Zhu-Tokita-Takenouchi-Kim syndrome

Disease name:  Zhu-Tokita-Takenouchi-Kim syndrome

ICD 10:  Q87.8

Synonyms:  ZTTK syndrome

 

Citable version for download in the Journal A&I www.ai-online.info:

 

Zhu-Tokita-Takenouchi-Kim-Syndrom


 

 

 

 


 

 

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