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


Carpeta Recommendations online


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

Carpeta 3-M syndrome

Disease name: 3M syndrome

ICD 10: Q87.1

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

Carpeta 3MC syndrome - Michels syndrome

Disease name:   3MC syndrome, Michels syndrome

ICD 10: -

Synonyms:  Malpuech-Michels-Mingarelli-Carnevale syndrome

Carpeta Achondroplasia

Disease name: Achondroplasia

ICD 10: Q77.4

Synonyms: Chondrodysplasia, Chondrodystrophia fetalis

Carpeta Acute adrenal insufficiency

Disease name: Acute adrenal insufficiency

ICD 10: E27.1-E27.4

Synonyms: Addisonian crisis

Carpeta Alkaptonuria

Disease name: Alkaptonuria

ICD 10: E70.2

Synonyms: Hereditary ochronosis, Homogentisate dioxygenase deficiency

Carpeta Allgrove syndrome

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

Carpeta Alpha-mannosidosis

Disease name: Alpha-mannosidosis

ICD 10: E77.1

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

Carpeta Alport syndrome

Disease name: Alport syndrome

ICD 10: Q87.81

Synonyms: Hereditary nephritis

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

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

Carpeta Angelman syndrome

Disease name: Angelman syndrome

ICD 10: Q93.5

Synonyms: (Happy) puppet syndrome

Carpeta Antiphospholipid antibody syndrome

Disease name: Antiphospholipid Antibody Syndrome (APS)

ICD 10: D68.6

Synonyms: Antiphospholipid Syndrome (APS)

Carpeta Apert syndrome

Disease name: Apert syndrome

ICD 10: Q87.0

Synonyms: ACS 1, Acrocephalosyndactyly type 1

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

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

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

Carpeta Beals syndrome

Disease name: Beals syndrome

ICD 10:  Q68.8

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

Carpeta Becker’s disease

Disease name: Recessive myotonia congenita

ICD 10: G71.1

Synonyms: Becker’s disease

Carpeta Beckwith–Wiedemann syndrome

Disease name: Beckwith–Wiedemann syndrome

ICD 10: 68730

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

Carpeta Behcet’s disease

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

Carpeta Biliary atresia

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

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).

Carpeta Bullous pemphigoid

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

Synonyms: - 

Carpeta CADASIL syndrome

Disease name: CADASIL syndrome

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

Synonyms: Dementia, hereditary multi-infarct type, Casil

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

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

Carpeta Central Core Disease

Disease name: Central Core disease

ICD 10: G71.2

Synonyms: Shy-McGee syndrome

Carpeta Cerebrotendinous xanthomatosis

Disease name: Cerebrotendinous xanthomatosis
ICD 10: E75.5
Synonyms: cerebrotendinous xanthomatosis, CTX, cerebral cholesterosis

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

Carpeta CHARGE syndrome

Disease name: CHARGE syndrome

ICD 10: Q87.8

Synonyms: CHARGE association; Hall-Hittner syndrome

Carpeta Coffin-Siris syndrome

Disease name: Coffin-Siris syndrome
ICD 10: Q87.1
Synonyms: CSS

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

Carpeta Congenital Central Hypoventilation Syndrome

Disease name: Congenital Central Hypoventilation Syndrome

ICD 10: G47.3

Synonyms: Undine Syndrome, Ondine’s Curse

Carpeta Congenital diaphragmatic hernia

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

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

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

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

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

Carpeta Duchenne muscular dystrophy

Disease name: Duchenne muscular dystrophy

ICD 10: G71.2

Synonyms: Dystrophinopathy

Carpeta Ehlers–Danlos syndrome

Disease name: Ehlers–Danlos syndrome

ICD 10: Q79.6

Synonyms: Dystrophinopathy

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.

Carpeta Epidermolysis bullosa

Disease name: Epidermolysis bullosa

ICD 10: Q81

Synonyms: -

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

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

Carpeta Fragile X syndrome

Disease name: Fragile X syndrome

ICD 10: Q99.2

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

Carpeta Fraser syndrome

Disease name: Fraser syndrome

ICD 10: Q87.0

Synonyms: Cryptophthalmos 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

Carpeta Friedreich's Ataxia

Disease name: Friedreich’s Ataxia

ICD 10: G11.1

Synonyms: -

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

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

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

Carpeta Goldenhar syndrome

Disease name: Goldenhar syndrome

ICD 10: Q87.0

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

Carpeta Gomez-Lopez-Hernandez syndrome

Disease name: Gomez-Lopez-Hernandez syndrome

ICD 10: Q07.8

Synonyms: Cerebellotrigeminal dermal dysplasia

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

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

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

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

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

Carpeta Hypoplastic left heart syndrome

Disease name: Hypoplastic left heart syndrome

ICD 10: Q23.4

Synonyms: HLHS

Carpeta Immune thrombocytopenia

Disease name: Immune thrombocytopenia (ITP)

ICD 10: D69.3

Synonyms: Immune thrombocytopenic purpura, idiopathic thrombocytopenic purpura

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 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


Carpeta Kabuki syndrome

Disease name: Kabuki syndrome

ICD 10: Q87.0

Synonyms: Kabuki make-up syndrome, Niikawa-Kuroki 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

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

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

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

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)

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

Carpeta Lenz-Majewski Hyperostotic Dwarfism

Disease name: Lenz-Majewski Hyperostotic Dwarfism
ICD 10: Q 87.1
Synonyms: Dystrophinopathy

Carpeta Leprosy

Disease name:   Leprosy

ICD 10:  A30

Synonyms:  –

Carpeta Liddle’s Syndrome

Disease name: Liddle’s Syndrome

ICD 10: I15.1

Synonyms: Pseudohyperaldosteronism

Carpeta Limb-girdle muscular dystrophy

Disease name: Limb-girdle muscular dystrophy

ICD 10: G71.0

Synonyms: -

Carpeta Long QT syndrome

Disease name: Long QT syndrome

ICD 10: l45.8

Synonyms: LQTS

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

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

Carpeta Malignant Hyperthermia

Disease name: Malignant Hyperthermia

ICD 10: T88.3

Synonyms: Malignant Hyperpyrexia

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

Carpeta Marfan Syndrome

Disease name: Marfan syndrome

ICD 10: Q87.4

Synonyms: Marfan's syndrome

Carpeta Maroteaux Lamy syndrome

Disease name: Maroteaux Lamy syndrome

ICD 10: E76.29

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

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

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

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

Carpeta Mitochondrial disorders

Disease name: Mitochondrial Cytopathy, Mitochondrial Myopathy, Mitochondrial


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

Carpeta Moebius syndrome

Disease name: Moebius syndrome

ICD 10: Q87.0

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

Carpeta Morquio syndrome

Disease name: Morquio Syndrome

ICD 10: E76.219

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

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.


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. 

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

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.

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)

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)

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

Carpeta Neurofibromatosis Type 2

Disease name: Neurofibromatosis Type 2

ICD 10: Q85.02

Synonyms: NF2

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

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

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: -

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

Carpeta Osteogenesis imperfecta

Disease name: Osteogenesis imperfecta

ICD 10: Q78.0

Synonyms: brittle bone disease, Lobstein syndrome

Carpeta Osteopetrosis

Disease name: Osteopetrosis

ICD 10: Q78.2

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

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

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

Carpeta Pfeiffer syndrome

Disease name: Pfeiffer syndrome

ICD 10: Q87.0

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

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

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

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)

Carpeta Prader-Willi syndrome

Disease name: Prader-Willi syndrome

ICD 10: Q87.1

Synonyms: Prader-Labhardt-Willi syndrome

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

Carpeta Proteus syndrome

Disease name: Proteus Syndrome

ICD 10: Q87.3
Synonyms: Wiedemann Syndrome, Elephant man disease

Carpeta PURA syndrome

Disease name:   PURA Syndrome

ICD 10:  Q93.5

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

Carpeta Rett syndrome

Disease name: Rett syndrome 

ICD 10: F84.2

Synonyms: Autistic disorder (F84.0)

Carpeta ROHHAD

Disease name: ROHHAD

ICD 10: -

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

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

Carpeta Saethre-Chotzen syndrome

Disease name: Saethre-Chotzen syndrome
ICD 10: Q87.0
Synonyms: Acro-cephalo-syndactyly (ACS) syndrome, ACS III

Carpeta Sanfilippo disease

Disease name: Sanfilippo disease

ICD 10: E76.2

Synonyms: MPS III, Sanfilippo syndrome, Mucopolisaccaridosi type III

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

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

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: -

Smith-McCort dwarfism, Orpha no: ORPHA178355

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


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

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)

Carpeta Stress cardiomyopathy

Disease name: Stress cardiomyopathy
ICD 10: I42
Synonyms: Ballooning cardiomyopathy, broken heart syndrome

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

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

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

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

Carpeta Tetralogy of Fallot

Disease name: Tetralogy of Fallot

ICD 10: Q21.3

Synonyms: Fallot's tetralogy

Carpeta Timothy syndrome

Disease name: Timothy syndrome

ICD 10: I45.8

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

Carpeta Tracheal agenesis

Disease name: Tracheal agenesis, Tracheal atresia

ICD 10: Q32.4

Synonyms: -

Carpeta Treacher Collins syndrome

Disease name: Treacher Collins syndrome

ICD 10:  Q75.4

Synonyms: Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome

Carpeta Trisomy 18 syndrome

Disease name: Trisomy 18

ICD 10: Q91.1
Synonyms: Edwards syndrome; trisomy E syndrome; chromosome 18, trisomy 18 complete; complete trisomy 18 syndrome

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. 

Carpeta Von Willebrand disease

Disease name: Von Willebrand disease

ICD 10: D68.0

Synonyms: Inherited bleeding disorder

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.

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

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

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







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