un proyecto de la Sociedad Alemana de Anestesiología y Medicina de Cuidados Intensivos (DGAI)

 
 

Carpeta Recommendations online

Categorías

Carpeta 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

Carpeta 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:

Carpeta 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

Carpeta Achondroplasia

Disease name: Achondroplasia

ICD 10: Q77.4

Synonyms: Chondrodysplasia, Chondrodystrophia fetalis

 

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Achondroplasia

Carpeta Acute adrenal insufficiency

Disease name: Acute adrenal insufficiency

ICD 10: E27.1-E27.4

Synonyms: Addisonian crisis

 

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Acute adrenal insufficiency

Carpeta Alkaptonuria

Disease name: Alkaptonuria


ICD 10: E70.2

Synonyms: Hereditary ochronosis, Homogentisate dioxygenase deficiency

 

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Alkaptonuria

Carpeta 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

Carpeta 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:

Carpeta Alport syndrome

Disease name: Alport syndrome

ICD 10: Q87.81

Synonyms: Hereditary nephritis

 

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DOI: 10.19224/ai2019.s405

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

 

DOI: 10.19224/ai2019.s421

Carpeta 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

Carpeta 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:

Carpeta Antiphospholipid antibody syndrome

Disease name: Antiphospholipid Antibody Syndrome (APS)

ICD 10: D68.6

Synonyms: Antiphospholipid Syndrome (APS)

 

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Antiphospholipid antibody syndrome

Carpeta Apert syndrome

Disease name: Apert syndrome

ICD 10: Q87.0

Synonyms: ACS 1, Acrocephalosyndactyly type 1

 

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Apert syndrome

Carpeta Argininosuccinate Lyase Deficiency

Disease name:  Argininosuccinate Lyase Deficiency
 
ICD 10: E72.2

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

Carpeta 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

Carpeta 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:

Carpeta 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

Carpeta Beals syndrome

Disease name: Beals syndrome

ICD 10:  Q68.8

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

 

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DOI: 10.19224/ai2019.s415

Carpeta 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

Carpeta Behcet’s disease

Disease name: Behcet’s disease
 
ICD 10: M 35.2
 
Synonyms: Behcet’s syndrome, BD
 
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Carpeta 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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Carpeta Biotinidase deficiency

Disease name: Biotinidase deficiency

ICD 10: E53.8

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

Carpeta 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

Carpeta 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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Carpeta 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

Carpeta 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:

Carpeta 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

 

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

DOI: 10.19224/ai2020.s067

Carpeta 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

Carpeta 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:

Carpeta 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

Carpeta 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

Carpeta 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:

Carpeta 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

Carpeta 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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Carpeta 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

Carpeta Congenital diaphragmatic hernia

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

Carpeta 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

Carpeta Conjoined twins

Disease name: Conjoined twins

ICD 10: Q 89.4

Synonyms: Siamese twins

Carpeta 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

Carpeta Costello syndrome

Disease name: Costello syndrome

ICD 10: Q87.8

Synonyms: Significant phenotypical overlap with CFC (cardiofaciocutaneous syndrome) 

Carpeta Crouzon syndrome

Disease name: Crouzon syndrome

ICD 10: Q75.1

Synonyms: Craniofacial dysostosis, first branchial arch syndrome

 

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Crouzon syndrome

Carpeta 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

Carpeta Cystic fibrosis

Disease name: Cystic fibrosis

ICD 10: E84.0

Synonyms: Mucoviscidosis

 

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Cystic fibrosis

Carpeta 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

Carpeta Deletion 9p syndrome

Disease name: Deletion 9p Syndrome
 
ICD 10: Q93.5
 
Synonyms: Alfi's Syndrome, 9p minus syndrome, chromosome 9p deletion syndrome

Carpeta Dermatomyositis

Disease name: Dermatomyositis

ICD 10: M33.90

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

Carpeta 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

Carpeta 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

Carpeta Dubowitz syndrome

Disease name:  Dubowitz syndrome

ICD 10:  Q87.1

Synonyms:  intrauterine primordial microsomia

Carpeta 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:

Carpeta 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:

Carpeta Eisenmenger's syndrome

Disease name: Eisenmenger's syndrome

ICD 10: Q21.8

Synonyms: Eisenmenger's disease; Eisenmenger's complex

Carpeta Ellis-van Creveld syndrome

Disease name: Ellis van-Creveld syndrome (EVC)
 
ICD 10: Q77.6
 
Synonyms: Chondroectodermal dysplasia, Mesodermic dysplasia

Carpeta 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

Carpeta Epidermolysis bullosa

Disease name: Epidermolysis bullosa

ICD 10: Q81

Synonyms: -

 

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Epidermolysis bullosa

 

The update 2020 version you find here:

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta Fibrodysplasia ossificans progressiva

Disease name: Fibrodysplasia ossificans progressiva

ICD 10: M61.1

Synonyms: FOP

 

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

 

Fibrodysplasia ossificans progressiva

Carpeta 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

Carpeta 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

Carpeta 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

 

Carpeta Friedreich's ataxia

Disease name: Friedreich’s Ataxia

ICD 10: G11.1

Synonyms: -

 

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

 

Friedreich's ataxia

Carpeta Fucosidosis

Disease name:  Fucosidosis (OMIM 230000)

ICD 10: E77.1

Synonyms: Alpha-L-Fucosidase Deficiency

Carpeta Gaucher disease

Disease name: Gaucher disease
 
ICD 10: E75.2
 
Synonyms: sphingolipidosis (lysosomal storage disorder, deficiency of glucocerebrosidase)

Carpeta Giant axonal neuropathy

Disease name:   Giant axonal neuropathy

ICD 10:  G60.8

Synonyms:  GAN

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta Gomez-Lopez-Hernandez syndrome

Disease name: Gomez-Lopez-Hernandez syndrome

ICD 10: Q07.8

Synonyms: Cerebellotrigeminal dermal dysplasia

 

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

 

Gomez-Lopez-Hernandez syndrome

Carpeta Haemophilia A

Disease name: Haemophilia A

ICD 10: D66

Synonyms: Classic haemophilia or Factor VIII deficiency

Carpeta Hallermann-Streiff syndrome

Disease name: Hallermann-Streiff syndrome

ICD 10: - 

Synonyms: Francois dyscephaly syndrome, oculo mandibulo dyscephaly

 

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

 

Hallermann-Streiff syndrome

 

The update 2019 version you find here:

Carpeta Hamamy syndrome

Disease name:   Hamamy syndrome

ICD 10: -

OMIM  611175

Synonyms:  Craniofacial dysplasia-osteopenia syndrome

Carpeta 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

 

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

 

Harlequin ichtyosis

Carpeta 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

Carpeta Homocystinuria

Disease name: Homocystinuria

ICD 10: E72.11

Synonyms: Homocystinemia, classical homocystinuria, cystathionine b-synthase

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

 

Homocystinuria

 
 

Carpeta 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

 

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

 

Hunter syndrome

Carpeta Huntington’s disease

Disease name: Huntington’s disease

ICD 10: G10
 
Synonyms: Huntington’s chorea

Carpeta Hurler syndrome

Disease name: Hurler syndrome

ICD 10: E 76.0

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

 

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

 

Hurler syndrome

Carpeta Hypoplastic left heart syndrome

Disease name: Hypoplastic left heart syndrome

ICD 10: Q23.4

Synonyms: HLHS

 

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

 

DOI: 10.19224/ai2017.s445

Carpeta Immune thrombocytopenia

Disease name: Immune thrombocytopenia (ITP)

ICD 10: D69.3

Synonyms: Immune thrombocytopenic purpura, idiopathic thrombocytopenic purpura

 

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

 

DOI: 10.19224/ai2017.s458

Carpeta Inclusion body myositis

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

Carpeta 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

Carpeta Insulinoma

Disease name:  Insulinoma

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

Synonyms: none

Carpeta 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

 

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

 

Joubert syndrome

 

The update 2019 version you find here:

Carpeta Kabuki syndrome

Disease name: Kabuki syndrome

ICD 10: Q87.0

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

 

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

 

Kabuki syndrome

Carpeta Kartagener syndrome

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

Carpeta Kasabach-Merritt syndrome

Disease name: Kasabach-Merritt syndrome

ICD 10: D75.8

Synonyms: haemangioma-thrombopenia syndrome, Kaposiform haemangioendothelioma
 
Citable version for download in the Journal A&I www.ai-online.info:

 

Kasabach-Merritt syndrome

 

The update 2019 version you find here:

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

 

Kearns-Sayre syndrome

Carpeta 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

Carpeta 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

 

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

 

DOI: 10.19224/ai2017.s482

Carpeta 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

Carpeta Klippel-Feil syndrome

Disease name: Klippel-Feil syndrome

ICD 10: Q76.1

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

 

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

 

Klippel-Feil syndrome

Carpeta Klippel-Trénaunay syndrome

Disease name: Klippel-Trénaunay syndrome
 
ICD 10: Q 87.2
 
Synonyms: Angio osteohypertrophy, naevus vasculosus osteohypertrophicus, capillary venous lymphatic malformation (CLVM)

Carpeta Lamellar ichthyosis

Disease name: Lamellar ichthyosis

ICD 10: Q80.2

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

 

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

 

Lamellar ichthyosis

Carpeta Larsen syndrome

Disease name: Larsen syndrome
 
ICD 10: OMIM 150250
 
Synonyms: -

Carpeta Lennox-Gastaut syndrome

Disease name: Lennox-Gastaut syndrome

ICD 10: G40.4

Synonyms: not reported

 

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

 

DOI: 10.19224/ai2017.s491

Carpeta Lenz-Majewski hyperostotic dwarfism

Disease name: Lenz-Majewski hyperostotic dwarfism
 
ICD 10: Q 87.1
 
Synonyms: Dystrophinopathy
 
Citable version for download in the Journal A&I www.ai-online.info:

 

Lenz-Majewski hyperostotic dwarfism

Carpeta Leprosy

Disease name:   Leprosy

ICD 10:  A30

Synonyms:  –
 

Carpeta Liddle’s syndrome

Disease name: Liddle’s syndrome

ICD 10: I15.1

Synonyms: Pseudohyperaldosteronism

 

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

 

Liddle's syndrome

Carpeta Limb-girdle muscular dystrophy

Disease name: Limb-girdle muscular dystrophy

ICD 10: G71.0

Synonyms: -

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

 

Limb-girdle muscular dystrophy

Carpeta 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

Carpeta 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

Carpeta Macrophage activation syndrome

Disease name: Macrophage activation syndrome

ICD 10: D76.2

Synonyms: haemophagocytic lymphohistiocytosis, reactive haemophagocytic syndrome, hemophagocytic syndrome

 

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

Macrophage activation syndrome

Carpeta Malignant hyperthermia

Disease name: Malignant hyperthermia

ICD 10: T88.3

Synonyms: Malignant hyperpyrexia

 

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

Malignant hyperthermia

 

The update 2019 version you find here:

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

Maple syrup urine disease

Carpeta Marfan syndrome

Disease name: Marfan syndrome

ICD 10: Q87.4

Synonyms: Marfan's syndrome

 

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

Marfan syndrome

 

The update 2020 version you find here:

Carpeta 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

Carpeta 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

Carpeta 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

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

Merosin-deficient congenital musculardystrophy

 

The update 2019 version you find here:

Carpeta Methylmalonic acidemia

Disease name: Methylmalonic acidemia

ICD 10: E71.1

Synonyms: Methylmalonic aciduria, MMA, isolated methylmalonic acidemia

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta Morquio syndrome

Disease name: Morquio Syndrome

ICD 10: E76.219

Synonyms: Morquio-Brailsford Syndrome; Mucopolysaccharidosis IV; MPS IV type IVA
 
Citable version for download in the Journal A&I www.ai-online.info:

 

Morquio syndrome

 

The update 2019 version you find here:

Carpeta 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

Carpeta 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. 

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

 

Moyamoya disease

Carpeta 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

 

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

 

Mucolipidosis type II and III

 

The update 2019 version you find here:

Carpeta 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.

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

 

Multiminicore disease

 

The update 2019 version you find here:

Carpeta Multiple myeloma

Disease name:   Multiple myeloma

ICD 10:  C90.0

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

Carpeta Myasthenia gravis

Disease name: Myasthenia gravis (MG)
 
ICD 10: G70.0
 
Synonyms: Myasthenia gravis (juvenile and adult form) autoimmune (receptor-binding antibodies)
 
Citable version for download in the Journal A&I www.ai-online.info:

 

Myasthenia gravis

 

The update 2019 version you find here:

Carpeta 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).

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta Niemann-Pick Type C

Disease name: Niemann-Pick type C
 
ICD 10: E75.242
 
Synonyms: Juvenile Niemann-Pick disease

Carpeta 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

Carpeta 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

Carpeta 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:

Carpeta 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

Carpeta Pallister-Hall syndrome

Disease name:  Pallister-Hall syndrome

ICD 10:  D33.0

Synonyms:  Hypothalamic hamartoblastoma syndrome

Carpeta 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

Carpeta 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

Carpeta Paroxysmal nocturnal haemoglobinuria

Disease name: Paroxysmal nocturnal haemoglobinuria (PNH)

ICD 10: D59.6

Synonyms: Marchiafava-Micheli disease; PNH

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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:

 

DOI: 10.19224/ai2018.s008

Carpeta Pierre Robin sequence

Disease name:   Pierre Robin sequence

ICD 10:  Q87.0

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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta PURA syndrome

Disease name:   PURA Syndrome

ICD 10:  Q93.5

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

Carpeta 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

Carpeta 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

Carpeta 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:

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta Schwartz-Jampel syndrome

Disease name:   Schwartz–Jampel syndrome

ICD 10: G71.13

Synonyms: chondrodystrophic myotonia, myotonic chondrodystrophy

Carpeta 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)

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta Sjögren-Larsson syndrome

Disease name:   Sjögren-Larsson syndrome

ICD 10: Q87.1

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

Carpeta 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

Carpeta 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)

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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:

 

DOI: 10.19224/ai2018.s644

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta Treacher Collins syndrome

Disease name: Treacher Collins syndrome

ICD 10:  Q75.4

Synonyms: Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome

Carpeta 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

Carpeta 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

Carpeta 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

Carpeta Waardenburg syndromes

Disease name: Waardenburg syndromes

ICD 10: Q87.8

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

Carpeta 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

Carpeta 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:

Carpeta Williams syndrome

Disease name:   Williams syndrome

ICD 10:  ./.

Synonyms:  Williams-Beuron syndrome

Carpeta 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

Carpeta 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


 

 

 

 


 

      

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