un proyecto de la Sociedad Alemana de Anestesiología y Medicina de Cuidados Intensivos (DGAI)
un proyecto de la Sociedad Alemana de Anestesiología y Medicina de Cuidados Intensivos (DGAI)
un proyecto de la Sociedad Alemana de Anestesiología y Medicina de Cuidados Intensivos (DGAI)
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
Disease name: 3-M syndrome
ICD 10: Q87.1
Synonyms: Dolichospondylic dysplasia, 3Μ dwarfism, gloomy face syndrome, le Merrer syndrome
The update 2019 version you find here:
Disease name: 3MC syndrome, Michels syndrome
ICD 10: -
Synonyms: Malpuech-Michels-Mingarelli-Carnevale syndrome
Disease name: Achondroplasia
ICD 10: Q77.4
Synonyms: Chondrodysplasia, Chondrodystrophia fetalis
Disease name: Acute adrenal insufficiency
ICD 10: E27.1-E27.4
Synonyms: Addisonian crisis
ICD 10: E70.2
Synonyms: Hereditary ochronosis, Homogentisate dioxygenase deficiency
Disease name: Allgrove Syndrome
ICD 10: E27.4
Synonyms: Triple A syndrome, 4 A Syndrome, Achalasia-Addisonianism-Alacrima syndrome
Disease name: Alpha-mannosidosis
ICD 10: E77.1
Synonyms: Lysosomal alpha-D-mannosidase deficiency, Alpha-Mannosidase B Deficiency
The update 2019 version you find here:
Disease name: Alport syndrome
ICD 10: Q87.81
Synonyms: Hereditary nephritis
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.
Disease name: Amyotrophi lateral sclerosis
ICD 10: G 12.2
Synonyms: Charcor disease, Lou Gehrig's 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
Disease name: Angelman syndrome
ICD 10: Q93.5
Synonyms: (Happy) puppet syndrome
The update 2019 version you find here:
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
Disease name: Antiphospholipid Antibody Syndrome (APS)
ICD 10: D68.6
Synonyms: Antiphospholipid Syndrome (APS)
Disease name: Apert syndrome
ICD 10: Q87.0
Synonyms: ACS 1, Acrocephalosyndactyly type 1
ICD 10: E72.2
Synonyms: ASA deficiency, ASL deficiency, Argininosuccinase deficiency, Argininosuccinatelyase deficiency, argininosuccinic acid lyase 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
Disease name: Arrhythmogenic right ventricular dysplasia
Disease name: Arthrogryposis multiplex congenita
ICD 10: Q74.32
Synonyms: Arthrogryposis, Amyoplasia Congenita, Congenital Arthromyodysplasia, Guérin-Stern syndrome, Myodystrophia Fetalis Deformans
Arthrogryposis multiplex congenita
The update 2019 version you find here:
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
Disease name: Beals syndrome
ICD 10: Q68.8
Synonyms: Congenital contractural arachnodactyly (CCA), Beals syndrome, Beals-Hecht syndrome
Disease name: Beckwith–Wiedemann syndrome
ICD 10: 68730
Synonyms: Exomphalos-Macroglossia – Gigantism Syndrome (EMG Syndrome)
Disease name: Biotinidase deficiency
ICD 10: E53.8
Synonyms: Late-Onset Biotin-aesponsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency
Disease name: Birt-Hogg-Dubé syndrome (BHDS)
ICD10: D23.9
Synonyms: Hornstein-Knickenberg 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
Disease name: Blue Rubber Bleb Naevus syndrome
ICD 10: D18
Synonyms: Bean syndrome, Gascoyne syndrome
citable version for download in the Journal A&I www.ai-online.info:
Disease name: Bronchopulmonary dysplasia
ICD 10: P27.1
Synonyms: Chronic lung disease of prematurity
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).
Synonyms: Dementia, hereditary multi-infarct type, Casil
The update 2019 version you find here:
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
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
Disease name: Central Core disease
ICD 10: G71.2
Synonyms: Shy-McGee syndrome
The update 2019 version you find here:
Disease name: Chanarin-Dorfman-Syndrom
ICD 10: E75.5
Synonyms: Neutral Lipid Storage Disease with ichthyosis
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
Disease name: CHARGE syndrome
ICD 10: Q87.8
Synonyms: CHARGE association; Hall-Hittner syndrome
The update 2019 version you find here:
Disease name: Collagen VI-related myopathy
ICD 10: G71
Synonyms/Spectrum of phenotypes:
Disease name: Congenital cataracts, facial dysmorphism and neuropathy syndrome
ICD 10: Q87.8
Synonyms: CCFDN syndrome
Disease name: Congenital central hypoventilation syndrome
ICD 10: G47.3
Synonyms: Undine syndrome, Ondine’s curse
Disease name: Congenital hypothyroidism
ICD 10:
E03.0 with diffuse goiter
E03.1 without goiter
Synonyms: CH, neonatal hypothyroidism, fetal iodine deficiency disorder
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
Disease name: Conjoined twins
ICD 10: Q 89.4
Synonyms: Siamese twins
Disease name: Cornelia de Lange syndrome
ICD 10: Q87.1
Synonyms: De Lange Syndrome, Brachmann-de Lange syndrome, Typus degenerativus amstelodamensis
Disease name: Costello syndrome
ICD 10: Q87.8
Synonyms: Significant phenotypical overlap with CFC (cardiofaciocutaneous syndrome)
Disease name: Crouzon syndrome
ICD 10: Q75.1
Synonyms: Craniofacial dysostosis, first branchial arch syndrome
Disease name: Cystic fibrosis
ICD 10: E84.0
Synonyms: Mucoviscidosis
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
Disease name: Distal arthrogryposis type 3
ICD 10: Q74.3
Synonyms: Gordon syndrome; distal arthrogryposis multiplex congenita type IIA; camptodactyly, cleft palate, and clubfoot
Disease name: Donohue syndrome
ICD 10: E34.8
Synonyms: Leprechaunism
Disease name: Dubowitz syndrome
ICD 10: Q87.1
Synonyms: intrauterine primordial microsomia
Disease name: Duchenne muscular dystrophy
ICD 10: G71.2
Synonyms: Dystrophinopathy
The update 2019 version you find here:
Disease name: Dyke-Davidoff-Masson syndrome
ICD 10: Q04.3
Synonyms: Cerebral hemi-atrophy; Cerebral hemi-hypoplasia
Disease name: Ehlers–Danlos syndrome
ICD 10: Q79.6
Synonyms: Dystrophinopathy
The update 2019 version you find here:
Disease name: Eisenmenger's syndrome
ICD 10: Q21.8
Synonyms: Eisenmenger's disease; Eisenmenger's complex
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.
Disease name: Epidermolysis bullosa
ICD 10: Q81
Synonyms: -
The update 2020 version you find here:
Disease name: Erdheim-Chester disease
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
Disease name: Fabry disease
ICD 10: E75.2
Synonyms: Morbus Fabry, Anderson Fabry disease, Fabry syndrome, Angiosarkoma corporis diffusum, α-galactosidase A deficiency
Disease name: Familial Dysautonomia
ICD 10: G90.1
Synonyms: Riley-Day syndrome, Hereditary Sensory and Autonomic Neuropathy Type III, HSAN III, HSAN3, HSN-III
Disease name: Fibrodysplasia ossificans progressiva
ICD 10: M61.1
Synonyms: FOP
Disease name: Fragile X syndrome
ICD 10: Q99.2
Synonyms: FXS, FraX-Syndrome, Marker X Syndrome, Martin-Bell-Syndrome
Disease name: Fraser syndrome
ICD 10: Q87.0
Synonyms: Cryptophthalmos 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
Disease name: Friedreich’s Ataxia
ICD 10: G11.1
Synonyms: -
Disease name: Fucosidosis (OMIM 230000)
ICD 10: E77.1
Synonyms: Alpha-L-Fucosidase Deficiency
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
Disease name: Giant axonal neuropathy
ICD 10: G60.8
Synonyms: GAN
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.
Disease name: Glucose-6-phosphate dehydrogenase deficiency
ICD 10: D55.0
Synonyms: Favism, G6PD deficiency, Glucosephosphate dehydrogenase deficiency
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
Disease name: Glycogen storage disease type I
ICD 10: E74.0
Synonyms: von Gierke disease, Glycogenosis type I, Glucose-6-phosphatase deficiency, GSD-I
Disease name: Goldenhar syndrome
ICD 10: Q87.0
Synonyms: Oculo-Auriculo-Vertebral (OAV) syndrome / sequence, Facio-Auriculo-Vertebral syndrome, Goldenhar-Gorlin syndrome
Disease name: Gomez-Lopez-Hernandez syndrome
ICD 10: Q07.8
Synonyms: Cerebellotrigeminal dermal dysplasia
Disease name: Goodpasture syndrome
ICD 10: M31.0
Synomyms: Goodpasture’s syndrome (GS), anti-glomerular basement membrane disease, crescentic glomerulonephritis type 1, GPS
Disease name: Haemophilia A
ICD 10: D66
Synonyms: Classic haemophilia or Factor VIII deficiency
Disease name: Hallermann-Streiff syndrome
ICD 10: -
Synonyms: Francois dyscephaly syndrome, oculo mandibulo dyscephaly
The update 2019 version you find here:
Disease name: Hamamy syndrome
ICD 10: -
OMIM 611175
Synonyms: Craniofacial dysplasia-osteopenia syndrome
Disease name: Harlequin ichthyosis
ICD 10: Q80.4
Synonyms: Harlequin baby, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus, Ichthyosis congenita gravior
Disease name: Hereditary spastic paraplegia (HSP)
ICD 10: G11.4
Synonyms: Strumpell-Lorrain disease (designating one type of HSP called SPG4); Familial spastic paraplegia
Disease name: Hermansky-Pudlak syndrome
ICD10: E70.3
Synonyms: /
Disease name: Homocystinuria
ICD 10: E72.11
Synonyms: Homocystinemia, classical homocystinuria, cystathionine b-synthase
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
Disease name: Huntington’s disease
Disease name: Hurler syndrome
ICD 10: E 76.0
Synonyms: Mucopolysaccharidosis (MPS) I-H, Alpha-L-Iduronidase Deficiency; Pfaundler-Hurler Syndrome
Disease name: Hypoplastic left heart syndrome
ICD 10: Q23.4
Synonyms: HLHS
Disease name: Immune thrombocytopenia (ITP)
ICD 10: D69.3
Synonyms: Immune thrombocytopenic purpura, idiopathic thrombocytopenic purpura
ICD 10: G23.0
Synonyms: INAD, NBIA2, Phospholipase A2-associated neurodegeneration (PLAN), Seitelberger Disease, Neurodegeneration with brain iron accumulation A
Disease name: Insulinoma
ICD 10: D13.7 (benign), C25.4 (malignant), D37.8 (uncertain behaviour)
Synonyms: none
Disease name: Jarcho-Levin syndrome
ICD 10: Q76
Synonyms: Spondylocostal dysostosis
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
The update 2019 version you find here:
Disease name: Kabuki syndrome
ICD 10: Q87.0
Synonyms: Kabuki make-up syndrome, Niikawa-Kuroki syndrome
The update 2019 version you find here:
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
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
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
Disease name: Klippel-Feil syndrome
ICD 10: Q76.1
Synonyms: Cervical vertebral fusion, Congenital cervical synostosis, Isolated Klippel-Feil syndrome, KFS
Disease name: Lamellar ichthyosis
ICD 10: Q80.2
Synonyms: Autosomal recessive congenital ichthyosis, bathing-suit ichthyosis (limited to the trunk)
Disease name: Lennox-Gastaut syndrome
ICD 10: G40.4
Synonyms: not reported
Disease name: Leprosy
ICD 10: A30
Synonyms: –
Disease name: Liddle’s syndrome
ICD 10: I15.1
Synonyms: Pseudohyperaldosteronism
Disease name: Limb-girdle muscular dystrophy
ICD 10: G71.0
Synonyms: -
Disease name: Lujan-Fryns syndrome
ICD 10: Q87.8
Synonyms: Lujan syndrome, X-linked mental retardation with marfanoid habitus, XLMR with marfanoid habitus
Disease name: Macrophage activation syndrome
ICD 10: D76.2
Synonyms: haemophagocytic lymphohistiocytosis, reactive haemophagocytic syndrome, hemophagocytic syndrome
Macrophage activation syndrome
The update 2019 version you find here:
Disease name: Madelung's disease
ICD 10: E88.89
Synonyms: Launois-Bensaude syndrome, Benign symmetrical lipomatosis, Multiple symmetrical lipomatosis
Disease name: Malignant hyperthermia
ICD 10: T88.3
Synonyms: Malignant hyperpyrexia
The update 2019 version you find here:
Disease name: Maple syrup urine disease
ICD 10: E71.0
Synonyms: MSUD, branched-chain ketoaciduria, branched-chain-alpha-ketoacid
Disease name: Marfan syndrome
ICD 10: Q87.4
Synonyms: Marfan's syndrome
Disease name: Maroteaux Lamy syndrome
ICD 10: E76.29
Synonyms: Mucopolysaccharidosis Type VI; MPS VI; arylsulfatase B (ARSB) deficiency
Merosin-deficient congenital musculardystrophy
The update 2019 version you find here:
Disease name: Metachromatic leukodystrophy
ICD 10: E75.25
Synonyms: - MLD
Disease name: Methylmalonic acidemia
ICD 10: E71.1
Synonyms: Methylmalonic aciduria, MMA, isolated methylmalonic acidemia
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
Disease name: Moebius syndrome
ICD 10: Q87.0
Synonyms: Congenital facial diplegia (Congenital oculofacial paralysis, Mӧbius syndrome, Moebius sequence, MBS
The update 2019 version you find here:
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.
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.
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
The update 2019 version you find here:
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.
The update 2019 version you find here:
Disease name: Multiple myeloma
ICD 10: C90.0
Synonyms: Kahler's disease, Medullary plasmacytoma, Myelomatosis, Plasma cell myeloma
The update 2019 version you find here:
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).
Disease name: Myotonic dystrophies type 1 and 2
ICD 10: G71.1
Synonyms: Curshmann-Batten-Steinert disease, Proximal myotonic myopathy (PROMM)
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
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
Disease name: Neurofibromatosis type 2
ICD 10: Q85.02
Synonyms: NF2
Disease name: Neuromyelitis optica spectrum disorder
ICD 10: G36.0
Synonyms: Devic's Disease, Devic's Syndrome, Neuromyelitis optica, NMO, NMOSD
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
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
Disease name: Noncompaction cardiomyopathy
ICD10: 142.8 (unclassified cardiomyopathy)
Synonyms: Non-compaction cardiomyopathy, Lef ventricle noncompaction cardiomyopathy, Noncompaction/hypertrabeculation cardiomyopathy, Spongiform cardiomyopathy.
Disease name: Noonan syndrome
ICD 10: Q87.1
Synonyms: -
Disease name: Oculo-ectodermal syndrome
OMIM: 600268
Synonyms: Aplasia cutis congenita-epibulbar dermoids 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
Disease name: Osteogenesis imperfecta
ICD 10: Q78.0
Synonyms: brittle bone disease, Lobstein syndrome
The update 2019 version you find here:
Disease name: Osteopetrosis
ICD 10: Q78.2
Synonyms: Marble bone disease, Albers-Schönberg disease, osteosclerosis, fragilitas generalisata, osteopetrosis generalisata
Disease name: Pallister-Hall syndrome
ICD 10: D33.0
Synonyms: Hypothalamic hamartoblastoma syndrome
Disease name: Pantothenate kinase-associated neurodegeneration
ICD 10: G23.0
Synonyms: Hallervorden-Spatz disease; neurodegeneration with brain iron accumulation type 1
Disease name: Paroxysmal nocturnal haemoglobinuria (PNH)
ICD 10: D59.6
Synonyms: Marchiafava-Micheli disease; PNH
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
Disease name: Pfeiffer syndrome
ICD 10: Q87.0
Snyonyms: ACS5, Acrocephalosyndactyly type V, noack syndrome, cranio-facialdermatological dysplasia
ICD 10: Q93.5
Synonyms: 22q13.3 Deletion syndrome, Chromosome 22q13.3 Deletion syndrome, Deletion 22q13 syndrome. Monosomy 22q13.3
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
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
Disease name: Pierre Robin sequence
ICD 10: Q87.0
Synonyms: Pierre Robin Syndrome, Anomalad, Complex, Deformity, Triad
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
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)
Disease name: Prader-Willi syndrome
ICD 10: Q87.1
Synonyms: Prader-Labhardt-Willi syndrome
Disease name: Preeclampsia
ICD 10: 014.0, 014.1, 014,2, 014.9
Synonyms: Preeclampsia, Pre-eclampsia, Toxaemia of pregnancy, Toxaemia of pregnancy, Toxaemia
Disease name: Propionic acidemia
ICD 10: E71.121
Synonyms: Propionyl-CoA carboxylase deficiency, PCC deficiency, PA, PCCA-related propionic academia, PCCB-related propionic acidemia
Disease name: Proteus Syndrome
Disease name: PURA Syndrome
ICD 10: Q93.5
Synonyms: PURA-related neurodevelopmental disorder, 5q31.3 deletion syndrome
Disease name: Recessive myotonia congenita
ICD 10: G71.1
Synonyms: Becker’s disease
Disease name: Rett syndrome
ICD 10: F84.2
Synonyms: Autistic disorder (F84.0)
Disease name: ROHHAD
ICD 10: -
Synonyms: Rapid onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction
The update 2019 version you find here:
Disease name: Russel-Silver syndrome
ICD 10: Q87.1
Synonyms: Silver-Russell-Syndrome
Russell-Silver dwarfism
Disease name: Sanfilippo disease
ICD 10: E76.2
Synonyms: MPS III, Sanfilippo syndrome, Mucopolisaccaridosi type III
Disease name: Schwartz–Jampel syndrome
ICD 10: G71.13
Synonyms: chondrodystrophic myotonia, myotonic chondrodystrophy
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)
Disease name: Segawa’s dystonia
ICD 10: G24.8
Synonyms: Segawa’s disease, Dopamine-responsive dystonia (DRD),
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
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
ICD 10: Q89.3
Synonyms: Situs inversus, Situs inversus viscerum, Complete situs inversus, Complete situs inversus viscerum
DOI: 10.19224/ai2021.s211
Disease name: Sjögren-Larsson syndrome
ICD 10: Q87.1
Synonyms: Fatty aldehyde dehydrogenase deficiency; Fatty acid alcohol oxidoreductase deficiency
Disease name: Smith-McCort Dysplasia (SMC)
ICD 10: -
Synonyms: Smith-McCort dwarfism, Orpha no: ORPHA178355
Disease name: Sotos syndrome
ICD10: Q87.3
Synonyms: Cerebral gigantism syndrome, Malan syndrome (Sotos syndrome 2)
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)
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)
Disease name: Sturge-Weber syndrome
ICD 10: Q85.8
Synonyms: Dmitri disease, encephalofacial angiomatosis, enchephalotrigeminal
Disease name: Stüve-Wiedemann syndrome
ICD 10: Q78.8
Synonyms: In older literature also known as Schwartz-Jampel type 2 syndrome
Disease name: Systemic mastocytosis (SM)
ICD 10: C96.2
Synonyms: -
Disease name: Systemic sclerosis
ICD 10: M34.0
Synonyms: Progressive systemic sclerosis, Scleroderma, CREST syndrome
Disease name: Thrombocytopenia-absent radius (TAR) syndrome
ICD 10: Q87.2
Synonyms: Absent radii and thrombocytopenia, Thrombocytopenia absent radii,
Disease name: Tetralogy of Fallot
ICD 10: Q21.3
Synonyms: Fallot's tetralogy
Disease name: Timothy syndrome
ICD 10: I45.8
Synonyms: LQT8, Long QT syndrome type 8, Long QT syndrome-syndactly syndrome
Disease name: Tracheal agenesis, Tracheal atresia
ICD 10: Q32.4
Synonyms: -
Disease name: Transverse myelitis
ICD 10: G37.3
Synonyms: -
Disease name: Treacher Collins syndrome
ICD 10: Q75.4
Synonyms: Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome
Disease name: Trisomy 18
ICD 10: Q91.1
Disease name: Tuberous sclerosis complex
ICD 10: Q85.1
Synonyms: Tuberous sclerosis, Bourneville disease, Epiloia
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
Disease name: VACTERL association
ICD 10: Q87.2
Synonyms: VATERS association, VACTERLS association, VACTERL association
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)
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)
Disease name: Von Hippel-Lindau disease
ICD 10: Q85.8
Synonyms: Morbus Hippel-Lindau, Familial cerebelloretinal angiomatosis, Lindau disease, VHL, VHLD
Disease name: Von Willebrand disease
ICD 10: D68.0
Synonyms: Inherited bleeding disorder
Disease name: Waardenburg syndromes
ICD 10: Q87.8
Synonyms: Waardenburg syndrome type I, type II, type III and type IV
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.
Disease name: Welander distal myopathy
ICD 10: G71.0
Synonyms: late adult onset type 1 distal myopathy; distal myopathy, Swedish type
The update 2019 version you find here:
Disease name: Williams syndrome
ICD 10: ./.
Synonyms: Williams-Beuren 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
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
Disease name: Zhu-Tokita-Takenouchi-Kim syndrome
ICD 10: Q87.8
Synonyms: ZTTK syndrome
