ein Projekt der Deutschen Gesellschaft für Anästhesiologie und Intensivmedizin e.V.
ein Projekt der Deutschen Gesellschaft für Anästhesiologie und Intensivmedizin e.V.
ein Projekt der Deutschen Gesellschaft für Anästhesiologie und Intensivmedizin e.V.
Erkrankung: 22q11.2 deletion syndrome
ICD 10: D82.1 (DiGeorge-syndrome), Q93.81 (velo-cardio-facial syndrome)
Synonyme: DiGeorge-syndrome, velocardiofacial-syndrome (VCFS), Shprintzen-syndrome,
“CATCH-22”-syndrome, conotruncal anomaly face syndrome, Takao syndrome
Name der Erkrankung: 3-M Syndrom
ICD10: Q87.1
Synonyme: Dolichospondylic dysplasia, 3Μ dwarfism, gloomy face syndrome, Le Merrer syndrome
Die aktualisierte Fassung von 2019 finden Sie hier:
Name der Erkrankung: 3MC syndrome, Michels syndrome
ICD 10: -
Synonyme: Malpuech-Michels-Mingarelli-Carnevale syndrome
Erkrankung: Achondroplasie
ICD 10: Q77.4
Synonyme: Chondrodysplasie, Chondrodystrophia fetalis
Erkrankung: Ahornsirupkrankheit / Maple syrup urine disease
ICD 10: E71.0
Synonyme: MSUD, branched-chain ketoaciduria, branched-chain-alpha-ketoacid dehydrogenase deficiency, BCKD deficiency, BCKDH deficiency, ketoacid decarboxylase deficiency
Erkrankung: Acute adrenal insufficiency
ICD 10: E27.1-E27.4
Synonyme: Addisonian crisis
Erkrankung: Alkaptonurie
ICD 10: E70.2
Synonyme: Hereditary ochronosis, Homogentisate dioxygenase deficiency
Name der Erkrankung: Allgrove Syndrome
ICD 10: E27.4
Synonyme: Triple A syndrome, 4 A Syndrome, Achalasia-Addisonianism-Alacrima syndrome
Erkrankung: Alpha-Mannosidose
ICD 10: E77.1
Synonyme: Lysosomal alpha-D-mannosidase deficiency, Alpha-Mannosidase B Deficiency
Die aktualisierte Fassung von 2019 finden Sie hier:
Name der Erkrankung: Alport syndrome
ICD 10: Q87.81
Synonyme: Hereditary nephritis
Name der Erkrankung: Alternating hemiplegia of childhood syndrome (AHC)
ICD 10: G98
Synonyme: 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.
Erkrankung: Amniotic band syndrome / Amniotisches-Band-Syndrom
ICD 10: P02.8
Synonyme: 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
Name der Erkrankung: Amyotrophi lateral sclerosis
ICD 10: G 12.2
Synonyme: Charcor disease, Lou Gehrig's disease
Name der Erkrankung: Andersen Disease (GSD IV)
ICD 10: E74.09
Synonyme: 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
Erkrankung: Angeborene Hypothyreose
ICD 10:
E03.0 with diffuse goiter
E03.1 without goiter
Synonyme: CH, neonatal hypothyroidism, fetal iodine deficiency disorder
Erkrankung: Congenital Diaphragmatic Hernia (CDH) / Angeborene Zwerchfellhernie
ICD 10: Q 79.0
Synonyme: CDH (congenital diaphragmatic hernia)
Erkrankung: Angelman Syndrom
ICD 10: Q93.5
Synonyme: (Happy) puppet Syndrom
Die aktualisierte Fassung von 2019 finden Sie hier:
Name der Erkrankung: Anti-NMDA-receptor encephalitis
ICD 10: G04.81 (Other encephalitis, myelitis and encephalomyelitis)
Synonyme: Anti-N-methyl-D-aspartate-receptor encephalitis, Anti-NMDAR encephalitis
Erkrankung: Antiphospholipid Antibody Syndrome (APS)
ICD 10: D68.6
Synonyme: Antiphospholipid Antibody Syndrome (APS)
Erkrankung: Apert Syndrom
ICD 10: Q87.0
Synonyme: ACS 1, Acrocephalosyndactylie Typ 1
ICD 10: E72.2
Synonyme: ASA deficiency, ASL deficiency, Argininosuccinase deficiency, Argininosuccinatelyase deficiency, argininosuccinic acid lyase deficiency
Name der Erkrankung: Aromatic L-amino acid decarboxylase deficiency
ICD 10: G24.8/ E70.9
Synonyme: AADC deficiency, DDC deficiency, DOPA decarboxylase deficiency, ALADD, AAD
Erkrankung: Arrhythmogenic right ventricular dysplasia
ICD 10: I42.8
Synonyme: arrhythmogenic right ventricular cardiomyopathy
Erkrankung: Arthrogryposis multiplex congenita
ICD 10: Q74.32
Synonyme: Arthrogryposis, Amyoplasia Congenita, Congenitale Arthromyodysplasie, Guerin-Stern-Syndrom, Myodystrophia Fetalis Deformans
Arthrogryposis multiplex congenita
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: 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
Synonyme: Autistic disorder, childhood autism, pervasive developmental disorder (not otherwise specified), atypical autism, Asperger syndrome, high-functioning autism
Erkrankung: Beckwith-Wiedemann-Syndrom
ICD 10: 68730
Synonyme: Exomphalos-Macroglossia – Gigantism Syndrome (EMG Syndrome)
Erkrankung: Behcet’s disease / Behçet-Krankheit / Morbus Behçet
ICD 10: M 35.2
Synonyme: Behcet’s syndrome, BD
Erkrankung: Biliary Atresia / Gallengangatresie
ICD 10: Q44.2
Synonyme: Extrahepatic biliary atresia, familial extrahepatic biliary atresia, idiopathic extrahepatic biliary atresia
Erkrankung: Biotinidasemangel
ICD 10: E53.8
Synonyme: Late-Onset Biotin-aesponsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency
Name der Erkrankung: Birt-Hogg-Dubé syndrome (BHDS)
ICD10: D23.9
Synonyme: 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
Name der Erkrankung: Blue Rubber Bleb Naevus syndrom
ICD 10: D18
Synonyme: Bean syndrom, Gascoyne syndrom
Erkrankung: Bronchopulmonale Dysplasie
ICD 10: P27.1
Synonyme: Chronig lung disease of prematurity
Erkrankung: Brugada-Syndrome
ICD 10: I47.2
Snyonyme: SUNDS - Sudden unexplained nocturnal death syndrome, Idiopathic ventricular fibrillation, Pokkuri (Japanese), Bangungut, Lai Tai (Phillipines and Southeastern Asia)
Erkrankung: Bullous Pemphigoid (BP) / Bullöses Pemphigoid
ICD 10: L12.0
Synonyme: -
Erkrankung: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL (acronym of Cerebral Autosomal Dominant Arteriopaty with Subcortical Infarcts and Leukoencephalopathy)
ICD 10: F01 Vascular dementia; F01.2 Subcortical vascular dementia
Synonyme: Dementia, hereditary multi-infarct type, Casil
Die aktualisierte Fassung von 2019 finden Sie hier:
Name der Erkrankung: Camp(t)omelic dysplasia
ICD 10: Q87.1
Synonyme: Camp(t)omelic dwarfism, Camp(t)omelic syndrome,
Certain phenotypes are named: acamp(t)omelic camp(t)omelic dysplasia
Erkrankung: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
ICD 10: I47 (Paroxysmal tachycardia), I47.2 (Ventricular tachycardia), ORPHA3286
Synonyme: Catecholamine-induced polymorphic ventricular tachycardia, bidirectional tachycardia induced by catecholamines, familial polymorphic ventricular tachycardia (FPVT),stress-induced polymorphic ventricular tachycardia
Erkrankung: Central Core Erkrankung
ICD 10: G71.2
Synonyme: Shy-McGee Syndrom
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: Cerebrotendinous xanthomatosis / Cerebrotendinöse Xanthomatose
ICD 10: E75.5
Synonyme: cerebrotendinous xanthomatosis, CTX, cerebral cholesterosis
Erkrankung: Chanarin-Dorfman-Syndrom
ICD 10: E75.5
Synonyme: Neutral Lipid Storage Disease with ichthyosis
Erkrankung: Charcot-Marie-Tooth disease
ICD 10: G60.0
Synonyme: 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: 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
Erkrankung: CHARGE Syndrom
ICD 10: Q87.8
Synonyme: CHARGE Assoziation; Hall-Hittner Syndrom
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: Coffin-Siris syndrome
ICD 10: Q87.1
Synonyme: CSS
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
Name der Erkrankung: Congenital cataracts, facial dysmorphism and neuropathy syndrome
ICD 10: Q87.8
Synonyme: CCFDN-Syndrom
Erkrankung: Cornelia-de-Lange Syndrom
ICD 10: Q87.1
Synonyme: De Lange Syndrome, Brachmann-de Lange Syndrome, Typus degenerativus amstelodamensis
Erkrankung: Costello Syndrom
ICD 10: Q87.8
Synonyme: Significant phenotypical overlap with CFC
Erkrankung: Crouzon Syndrom
ICD 10: Q75.1
Synonyme: Craniofacial dysostosis, first branchial arch syndrome
Erkrankung: De Barsy syndrome / De-Barsy-Syndrom
ICD 10: Q87.7; OMIM 614438
Synonyme: 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
Erkrankung: Deletion 9p Syndrome
ICD 10: Q93.5
Synonyme: Alfi's Syndrome, 9p minus syndrome, chromosome 9p deletion syndrome
Name der Erkrankung: Distal arthrogryposis type 1 (A and B)
ICD 10: Q74.3
Synonyme: Distal arthrogryposis multiplex congenita type I, distal arthrogryposis type 1A, distal arthrogryposis type 1B
Name der Erkrankung: Distal arthrogryposis type 3
ICD 10: Q74.3
Synonyme: Gordon syndrome; distal arthrogryposis multiplex congenita type IIA; camptodactyly, cleft palate, and clubfoot
Erkrankung: Distale Myopathie Welander
ICD 10: G71.0
Synonyme: late adult onset type 1 distal myopathy; distal myopathy, Swedish type
Die aktualisierte Fassung von 2019 finden Sie hier:
Name der Erkrankung: Donohue syndrome
ICD 10: E34.8
Synonyme: Leprechaunism
Name der Erkrankung: Dubowitz-Syndrom
ICD 10: Q87.1
Synonyme: intrauterine primordial microsomia
Name der Erkrankung: Dyke-Davidoff-Masson syndrome
ICD 10: Q04.3
Synonyme: Cerebral hemi-atrophy; Cerebral hemi-hypoplasia
Erkrankung: Ehlers-Danlos-Syndrom
ICD 10: Q79.6
Synonyme: Dystrophinopathy
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: Einschlusskörpermyositis
ICD 10: M60.8
Synonyme: Sporadische Einschlusskörpermyositis, Sporadic Inclusion Body Myositis
Erkrankung: Eisenmenger-Syndrom
ICD 10: Q21.8
Synonyme: Eisenmenger Erkrankung, Eisenmenger Komplex
Erkrankung: Ellis van-Creveld syndrome (EVC)
ICD 10: Q77.6
Synonyme: Chondroectodermal dysplasia, Mesodermic dysplasia
Erkrankung: Emery-Dreifuss Muscular Dystrophy (EDMD)
ICD 10: G71.0
Synonyme: Benign Scapuloperoneal Muscular Dystrophy, Hauptmann-Thannhauser Muscular Dystrophy, EDMD 1 (X-linked affecting EMD gene), EDMD 2/3 (autosomal dominant/recessive affecting LMNA gene)
Name der Erkrankung: Epidermolysis bullosa
ICD 10: Q81
Synonyme: -
Die aktualisierte Fassung von 2020 finden Sie hier:
Erkrankung: Erdheim-Chester disease
ICD 10: C96.1 (ICD-9-CM: 202.3)
Synonyme: ECD is also called lipoid granulomatosis; non-Langerhans cell histiocytosis; Erdheim-Chester syndrome; polyostotic sclerosing histiocytosis
Erkrankung: Multiple pterygium syndrome, Escobar variant
ICD 10: Q79.8
Synonyme: Escobar syndrome; pterygium syndrome; multiple pterygium syndrome, non-lethal type; familial pterygium syndrome; pterygium colli syndrome; pterygium universale
Name der Erkrankung: Fabry disease
ICD 10: E75.2
Synonyme: Morbus Fabry, Anderson Fabry disease, Fabry syndrome, Angiosarkoma corporis diffusum, α-galactosidase A deficiency
Erkrankung: Fallot-Tetralogie
ICD 10: Q21.3
Synyonyme: Fallot’sche Tetralogie
Erkrankung: Familiäre Dysautonomie
ICD 10: G90.1
Synonyme: Riley-Day-Syndrom, Hereditary Sensory and Autonomic Neuropathy Type lll, HSAN lll, HSAN3, HSN-lll
Erkrankung: Fibrodysplasia Ossificans Progressiva
IDC 10: M61.1
Synonyme: FOP
Erkrankung: Fragiles X Syndrom
ICD 10: Q99.2
Synonyme: FXS, FraX-Syndrome, Marker X Syndrome, Martin-Bell Syndrome
Erkrankung: Fraser-Syndrome
ICD 10: Q87.0
Synonyme: Cryptophthalmos syndrome
Name der Erkrankung: Freeman-Burian syndrome
ICD 10: Q87.0
Synonyme: Freeman-Sheldon syndrome, Whistling face syndrome, distal arthrogryposis type 2A, craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, cranio-facio-corporal syndrome
Erkrankung: Friedreich-Ataxie
ICD 10: G11.1
Synonyme: Morbus Friedreich
Name der Erkrankung: Fucosidosis (OMIM 230000)
ICD 10: E77.1
Synonyme: Alpha-L-Fucosidase Deficiency
Erkrankung: Gaucher disease
ICD 10: E75.2
Synonyme: Sphingolipidosis (lysosomal storage disorder, deficiency of glucocerebrosidase)
Name der Erkrankung: Gerstmann Sträussler Scheinker syndrome
ICD 10: A81.9
Synonyme: Gerstmann-Straussler-Scheinker syndrome, Gerstmann-Sträussler-Scheinker syndrome, GSS syndrome, GSS, Gerstmann-Straussler-Scheinker disease, Gerstmann-Sträussler-Scheinker disease, Gerstmann-Straussler syndrome
Name der Erkrankung: Glanzmann’s thrombasthenia
ICD 10: D69.1
Synonyme: 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.
Erkrankung: Gliedergürteldystrophie, limb-girdle muscular dystrophy
ICD 10: G71.0
Synonyme: -
Erkrankung: Glucose-6-phosphate dehydrogenase deficiency
ICD 10: D55.0
Synonyme: Favism, G6PD deficiency, Glucosephosphate Dehydrogenase Deficiency
Erkrankung: Glutaric acidemia type 1
ICD 10: E72.3 - Disorders of lysine and hydroxylysine metabolism
Synonyme: Glutaric aciduria type 1
Erkrankung: Glykogenose Typ I / Von-Gierke-Krankheit
ICD 10: E74.0
Synonyme: Von-Gierke-Krankheit, Glycogenosis type I, Glucose-6-phosphatase deficiency, GSD-I
Erkrankung: Goldenhar-Syndrom
ICD 10: Q87.0
Synonyme: Oculo-Auriculo-Vertebral (OAV) syndrome / sequence, Facio-Auriculo-Vertebral syndrome, Goldenhar-Gorlin syndrome
Erkrankung: Gomez-Lopez-Hernandez Syndrom
ICD 10: Q07.8
Synonyme: 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
Name der Erkrankung: Hallermann-Streiff-Syndrome
ICD 10: -
Synonyme: Francois dyscephaly syndrome, oculo mandibulo dyscephaly
Die aktualisierte Fassung von 2019 finden Sie hier:
Name der Erkrankung: Hamamy syndrome
ICD 10: ./.
OMIM 611175
Synonyme: Craniofacial dysplasia-osteopenia syndrome
Erkrankung: Hämophilie A
ICD 10: D66
Synonyme: Classic haemophilia or Factor VIII deficiency
Erkrankung: Harlequin ichthyosis
ICD 10: Q80.4
Synonyme: Harlequin baby, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus, Ichthyosis congenita gravior
Name: Hereditary spastic paraplegia (HSP)
ICD 10: G11.4
Synonyme: Strumpell-Lorrain disease (designating one type of HSP called SPG4); Familial spastic paraplegia
Name der Erkrankung: Hermansky-Pudlak syndrome
ICD10: E70.3
Synoyme: /
Erkrankung: Homocystinurie
ICD 10: E72.11
Synonyme: Homocystinemia, classical homocystinuria, cystathionine b-synthase deficiency, CBS deficiency
Erkrankung: Hunter-Syndrom, Morbus Hunter
ICD 10: E76.1
Synonyme: Mucopolysaccharidosis, Type II; MPS2; Iduronate-2-sulfatase deficiency; IDS deficiency; sulfo-iduronate sulfatase deficiency; SIDS deficiency
Erkrankung: Huntington’s disease
ICD 10: G10
Synonyme: Huntington’s chorea
Erkrankung: Hurler Syndrom
ICD 10: E76.0
Synonyme: Mucopolysaccharidosis (MPS) I-H, Alpha-L-Iduronidase Deficiency; Pfaundler-Hurler Syndrome
Erkrankung: Hypoplastisches Linksherzsyndrom
ICD 10: Q23.4
Synonyme: HLHS
Erkrankung: Immune Thrombozytopenie (ITP)
ICD 10: D69.3
Synonyme: Immune thrombocytopenic purpura, idiopathic thrombocytopenic purpura
ICD 10: G23.0
Synonyme: INAD, NBIA2, Phospholipase A2-associated neurodegeneration (PLAN), Seitelberger Disease, Neurodegeneration with brain iron accumulation A
Name der Erkrankung: Insulinoma
ICD 10: D13.7 (benign), C25.4 (malignant), D37.8 (uncertain behaviour)
Synonyme: keine
Zitierfähige Version zum Download in der Zeitschrift A&I www.ai-online.info:
Name der Erkrankung: Jarcho-Levin syndrome
ICD 10: Q76
Synonyme: Spondylocostal dysostosis
Name der Erkrankung: Joubert Syndrom
ICD 10: Q04.3
Synonyme: CPD IV, Cerebelloparenchymal disorder IV, Classic Joubert syndrome, Joubert syndrome type A, Pure Joubert syndrome, Vermis-Agenesia, Joubert-Boltshauser syndrome
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: Kabuki-Syndrom
ICD 10: Q87.0
Synonyme: Kabuki make-up syndrome, Niikawa-Kuroki syndrome
Erkrankung Camp(t)omelic dysplasia / Kampomele Dysplasie / Kampomeles Syndrom
ICD 10: Q87.1
Synonyme: Camp(t)omelic dwarfism, Camp(t)omelic syndrome, Certain phenotypes are named: acamp(t)omelic camp(t)omelic dysplasia
Erkrankung: Kartagener-Syndrom
ICD 10: Q89.3
Synonyme: sinusitis-bronchiectasis-situs inversus (triad) syndrome
Erkrankung: Kasabach-Merritt syndrome
ICD 10: D75.8
Synonyme: haemangioma-thrombopenia syndrome, Kaposiform haemangioendothelioma
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: Kearns Sayre syndrome
ICD 10: H49.8
Synonyme: 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
Name der Erkrankung: Kennedy disease
ICD 10: G 12.1
Synonyme: Spinal and bulbar muscular atrophy, x-linked spinal and bulbar muscular atrophy, bulbospinal muscular atrophy
Erkrankung: Kikuchi-Fujimoto-Krankheit
ICD 10: I88.1 Lymphadenitis cervical, non specified site, chronic or subacute
Synonyme: Histiocytic necrotizing lymphadenitis, Kikuchi disease, Kikuchi-Fujimoto disease, Kikuchi lymphadenitis, lymphadenopathy, KFD
Name der Erkrankung: Kleefstra Syndrome
ICD 10: Q93.5
Synonyme: 9q subtelomeric deletion syndrome, 9q- syndrome, 9q34.3 deletion syndrome, 9q34.3 microdeletion syndrome, chromosome 9q deletion syndrome
Erkrankung: Klippel-Feil-Syndrom
ICD 10: Q76.1
Synonyme: Cervical vertebral fusion, congenital cervical synostosis, isolated Klippel-Feil syndrome, KFS
Erkrankung: Klippel-Trénaunay syndrome
ICD 10: Q 87.2
Synonyme: Angio osteohypertrophy, naevus vasculosus osteohypertrophicus, capillary venous lymphatic malformation (CLVM)
Name der Erkrankung: Congenital Pulmonary Airway Malformation (CPAM)
ICD 10: Q33.0
Synonyme: Congenital cystic adenomatoid malformation of lung (CCAM), Congenital honeycomb lung, Cystic adenomatoid malformation, Cystic lung, congenital, Single lung cyst
Erkrankung: Kongenitales zentrales Hypoventilationssyndrom
ICD 10: G47.3
Syonyme: Undine Syndrome, Ondine's Curse
Erkrankung: Lamellar ichthyosis
ICD 10: Q80.2
Synonyme: Autosomal recessive congenital ichthyosis, bathing-suit ichthyosis (limited to the trunk)
Erkrankung: Larsen Syndrom
ICD10: Q74.8; OMIM 150250
Synonyme: -
Erkrankung: Lennox-Gastaut Syndrom
ICD 10: G40.4
Synonyme: not reported
Erkrankung: Lenz-Majewski-Syndrom
ICD 10: Q87.1
Synonyme: Dystrophinopathy
Name der Erkrankung: Lepra, Leprosy
ICD 10: A30
Synonyme: –
Erkrankung: Liddle-Syndrom
ICD 10: I15.1
Synonyme: Pseudohyperaldosteronism
Erkrankung: Limb-girdle muscular dystrophy
ICD 10: G71.0
Synonyme: -
Erkrankung: Lowe syndrome
ICD 10: E72.03
Synonyme: OCRL, oculo-cerebro-renal syndrome, oculo-cerebro-renal syndrome of Lowe, Lowe-Terrey-MacLachan syndrome
Name der Erkrankung: Lujan-Fryns syndrome
ICD 10: Q87.8
Synonyme: Lujan syndrome, X-linked mental retardation with marfanoid habitus, XLMR with marfanoid habitus
Erkrankung: Macrophage activation Syndrom
ICD 10: D76.2
Synonyme: haemophagocytic lymphohistiocytosis, reactive haemophagocytic syndrome, hemophagocytic syndrome
Hier finden Sie die Update-Version von 2021.
Macrophage activation syndrome
Die Update-Version von 2021 finden Sie hier:
Name der Erkrankung: Madelung's disease
ICD 10: E88.89
Synonyme: Madelung-Deformität, Madelung Fetthals, Madelung-Syndrom, Launois-Bensaude syndrome, Benign symmetrical lipomatosis, Multiple symmetrical lipomatosis
Erkrankung: Maligne Hyperthermie
ICD 10: T88.3
Synonyme: Malignant Hyperpyrexia
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: Marfan Syndrom
ICD 10: Q 87.4
Synonyme: Marfans Syndrom
Erkrankung: Maroteaux Lamy Syndrom
ICD 10: E76.29
Synonyme: Mucopolysaccharidosis Type VI; MPS VI; arylsulfatase B (ARSB) deficiency
Erkrankung: McCune-Albright syndrome
ICD 10: Q78.1
Synonyme: Polyostotic fibrous dysplasia, MAS, Albright syndrome, osteitis fibrosa
disseminata, PFD, precocious puberty with polyostotic fibrosis and abnormal pigmentation, POFD
Name der Erkrankung: Merosin-deficient congenital muscular dystrophy
ICD 10: G71.0
Synonyme: 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
Merosin-deficient congenital musculardystrophy
Die aktualisierte Fassung von 2019 finden Sie hier:
Name Erkrankung: Metachromatic leukodystrophy
ICD 10: E75.25
Synonyme: - MLD
Disease name: Methylmalonic acidemia
ICD 10: E71.1
Synonyms: Methylmalonic aciduria, MMA, isolated methylmalonic acidemia
Erkrankung: Miller-Dieker syndrome
ICD 10: Q93.88
Synonyme: 17p13.3 deletion syndrome
Erkrankung: Mitochondrial Cytopathy, Mitochondrial Myopathy, Mitochondrial
ICD 10: G731.81
Synonyme: 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
Erkrankung: Moebius Syndrom
ICD 10: Q87.0
Synonyme: Congenital facial diplegia (congenital oculofacial paralysis, Möbius syndrome, Moebius sequence, MBS
Zitierfähige Version zum Download in der Zeitschrift A&I www.ai-online.info:
Name der Erkrankung: Morquio Syndrom
ICD 10: E76.219
Synonyme: Morquio-Brailsford Syndrom; Mucopolysaccharidose IV; MPS IV Typ IVA
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: Mounier-Kuhn Syndrom
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
Synonyme: Tracheobronchomegaly, trachiectasis, tracheobronchomalacia, and multiple tracheal diverticula.
Name der Erkrankung: Moyamoya
ICD 10: I67.5
Synonyme: Moyamoya means "something hazy, like a puff of cigarette smoke" in Japanese. It is also referred to as progressive intracranical occlusive arteriopathy.
Name der Erkrankung: Mucolipidose Typ 2 und 3
ICD 10: E77.0
Synonyme: Mucolipidose Typ 2 - I-cell disease, N-acetyl-glucosamine 1-phosphotransferase deficiency, Mucolipidose Typ 3 - Pseudo-Hurler polydystrophy
Die aktualisierte Fassung von 2019 finden Sie hier:
Name der Erkrankung Multiminicore disease
ICD 10: G71.2
Synonyme: 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.
Die aktualisierte Fassung von 2019 finden Sie hier:
Name der Erkrankung: Multiple Myeloma
ICD 10: C90.0
Synonyme: Kahler's disease, Medullary plasmacytoma, Myelomatosis, Plasma cell myeloma
Name der Erkrankung: Muskeldystrophie Duchenne
ICD 10: G71.2
Synonyme: Dystrophinopathie
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: Myasthenia Gravis (MG)
ICD 10: G70.0
Synonyme: Myasthenia gravis (juvenile and adult form), autoimmune (recepter-binding antibodies)
Die aktualisierte Fassung von 2019 finden Sie hier:
Name der Erkrankung: MYH9 related disease (OMIM 600208)
ICD 10: D69.4
Synonyme: 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).
Erkrankung: Myotone Dystrophie Typ 1 und 2
ICD 10: G71.1
Synonyme: Curshmann-Batten-Steinert disease, Proximal myotonic myopathy (PROMM)
Name der Erkrankung: Nager syndrome
ICD 10: Q75.4
OMIM: 154400
Synonyme: Acrofacial dysostosis 1 (AFD1), Nager acrofacial dysostosis, Preaxial acrofacial dysostosis, Mandibulofacial dysostosis with preaxial limb anomalies
Name der Erkrankung: Nemaline myopathy
ICD 10: G71.2
OMIM: 161 800, 256 030, 605 355
Synonyme: NM, rod myopathy, congenital rod disease, nemaline rod myopathy
Erkrankung: Neurodegeneration mit Eisenablagerung im Gehirn / Pantothenate kinase-associated neurodegeneration
ICD 10: G23.0
Synonyme: Hallverorden-Spatz disease, neurodegeneration with brain iron accumulation type 1
Erkrankung: Neurofibromatose Typ 2
ICD 10: Q85.02
Synonyme: NF2
Erkrankung: Neuromyelitis optica
ICD 10: G36.0
Synonyme: Devic's Disease, Devic's Syndrome, Neuromyelitis optica, NMO, NMOSD
Name der Erkrankung: Neuromyotonia
ICD10: G71.19
Synonyme: Isaac's syndrome, Continuous mascle fibre acitivity syndrome, Isaacs-Mertens syndrome, Quantal-Aquander syndrome, Gamstorp-Wohlfar syndrome, pseudomyotonia
Erkrankung: Neuronale Ceroid-Lipofuszinose
ICD 10: E75.4
Synonyme: 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
Erkrankung: Niemann-Pick Typ C Krankheit (NPC)
ICD 10: E75.242
Synonyme: Juvenile Niemann-Pick disease
Name der Erkrankung: Noncompaction cardiomyopathy
ICD10: 142.8 (unclassified cardiomyopathy)
Synonyme: Non-compaction cardiomyopathy, Lef ventricle noncompaction cardiomyopathy, Noncompaction/hypertrabeculation cardiomyopathy, Spongiform cardiomyopathy.
Erkrankung: Noonan Syndrom
ICD 10: Q87.1
Synonyme: -
Name der Erkrankung: Oculo-ectodermal syndrome
OMIM: 600268
Synonyme: Aplasia cutis congenita-epibulbar dermoids syndrome
Erkrankung: Opitz G/BBB Syndrom
ICD 10: Q87.8
Synonyme: 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
Erkrankung: Osteogenesis Imperfecta
ICD 10: Q78.0
Synonyme: brittle bone disease, Lobstein-Syndrom
Die aktualisisierte Fassung von 2019 finden Sie hier:
Erkrankung: Ostepetrose
ICD 10: Q78.2
Synonyme: Marble bone disease, Albers-Schönberg disease, Osteosclerosis, Fragilitas generalisata, Ostepetrosis generalisata
Erkrankung: Pallister-Hall Syndrom
ICD 10: D33.0
Synonyme: Hypothalamic hamartoblastoma syndrome
Erkrankung: Paraganglioma & Pheochromocytoma
ICD 10: D35.00 benign phaeochromocytoma; C74.1 malignant phaeochromocytoma; D44.7 paraganglioma
Synonyme: Chromaffinoma, Chromaffin paraganglioma, Chromaffin tumor, intra-medullary paraganglioma, Chromaffin cell tumor
Erkrankung: Paroxysmale nächtliche Hämoglobinurie, PNH
ICD 10: D59.6
Synonyme: Marchiafava-Michele disease, PNH
Erkrankung: Pena-Shokeir-Syndrom
ICD 10: Q87.8
Synonyme: Pena-Shokeir-Syndrom, Type l (OMIM 208150), Fetal akinesia sequence, Arthrogryposis multiplex congentia with pulmonary hypoplasia
Erkrankung: Pfeiffer Syndrom
ICD 10: Q87.0
Synonyme: ACS5, Acrocephalosyndactyly type V, noack syndrome, cranio-facialdermatological dysplasia
ICD 10: Q93.5
Synonyme: 22q13.3 Deletion syndrome, Chromosome 22q13.3 Deletion syndrome, Deletion 22q13 syndrome. Monosomy 22q13.3
Name der Erkrankung: Phenylketonuria
ICD 10: E70.0, E70.1
OMI: 260600, 260630
GARD 7383
Synonyme: Phenylalanine hydroxylase deficiency, BH4 deficiency (dihydropterine reductase deficiency), PKU, Fǿlling disease, Phenylpyruvic oligophrenia
Erkrankung: Phokomelie
ICD 10: Q71.1 (phocomelia upper limb), Q72.1 (phocomelia lower limb), Q73.1 (phocomelia unspecifed limb)
Synonyme und assoziierte Erkrankungen: Roberts SC-Phocomelia Syndrom, Roberts Tetraphocomelia Syndrom, SC Phocomelia Syndrom, Pseudo-thalidomide Syndrom, Tetraphocomelia Syndrom, DK Phocomelia, Fuhrman Syndrom, Holt-Oram Syndrom, Steinfeld Syndrom
Name der Erkrankung: Pierre Robin sequence
ICD 10: Q87.0
Synonyme: Pierre Robin Syndrom, Anomalad, Complex, Deformity, Triad
Erkrankung: Pompe-Erkrankung (auch: Pomp'sche Krankheit)
ICD 10: E74.0
Syonyme: Glycogen storage disase 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
Erkrankung: Porphyrie
ICD 10: E80.0, E80.1, E80.2
Synonyme: 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)
Erkrankung: Prader-Willi Syndrom
ICD 10: Q87.1
Synonyme: Prader-Labhardt-Willi Syndrom
Name der Erkrankung: Preeclampsia
ICD 10: 014.0, 014.1, 014,2, 014.9
Synonyme: Preeclampsia, Pre-eclampsia, Toxaemia of pregnancy, Toxaemia of pregnancy, Toxaemia
Name der Erkrankung: Propionazidämie, Propionic acidemia
ICD 10: E71.121
Synonyme: Propionyl-CoA carboxylase deficiency, PCC deficiency, PA, PCCA-related propionic academia, PCCB-related propionic acidemia
Erkankung: Proteus-Syndrom
ICD 10: Q87.3
Synonyme: Wiedemann-Syndrom, Elephant man disease
Name der Erkrankung: PURA Syndrome/ PURA-Syndrom
ICD 10: Q93.5
Synonyme: PURA-related neurodevelopmental disorder, 5q31.3 deletion syndrome
Erkrankung: Rett-Syndrom
ICD 10: F84.2
Synonyme: Autistic disorder (F84.0)
Erkrankung: Recessive myotonia congenita
ICD 10: G71.1
Synonyme: Becker’s disease
Name der Erkrankung: Riesenaxon-Neuropathie, Giant axonal neuropathy
ICD 10: G60.8
Synonyme: GAN
Erkrankung: ROHHAD
ICD 10: -
Synonyme: Rapid onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction
Die aktualisierte Fassung von 2019 finden Sie hier:
Erkrankung: Russel-Silver Syndrom
ICD 10: G71.2
Synonyme: Silver-Russell Syndrom
Russell-Silver dwarfism
Erkrankung: Saethre-Chotzen Syndrom
ICD 10: Q87.0
Synonyme: Acro-cephalo-syndactyly (ACS) syndrome, ACS III
Erkrankung: Sanfilippo Syndrom
ICD 10: E76.2
Synonyme: MPS III, Sanfilippo syndrome, Mucopolisaccaridosi type III
Name der Erkrankung: Schwartz–Jampel syndrome
ICD 10: G71.13
Synonyme: chondrodystrophic myotonia, myotonic chondrodystrophy
Name der Erkrankung: Scimitar Syndrom
ICD 10: Q26.8
Synonyme: Congenital Pulmonary Venolobar Syndrome, Pulmonary Venous Return Anomaly, Partial/Total Anomalous Pulmonary Venous Return (P/TAPVR)
Erkrankung: Segawa-Syndrom
ICD 10: G24.8
Synonyme: Segawa’s disease, Dopamine-responsive dystonia (DRD),
Hereditary progressive dystonia with diurnal fluctuation, DYT5a dystonia, GTP
cyclohydrolase 1-deficient dopa-responsive dystonia
Name der Erkrankung: Sheldon-Hall syndrome
ICD 10: Q74.3
Synonyme: Freeman-Sheldon variant, distal arthrogryposis multiplex congenita, distal arthrogryposis type 2B, distal arthrogryposis multiplex congenita type II with craniofacial abnormalities
Erkrankung: Siamesische Zwillinge
ICD 10: Q 89.4
Synonyme: Siamese twins, Conjoint twins
Erkrankung: Sichelzellenanämie
ICD 10: D57.1
Synonyme: Sickle Cell Anemia, Sickle-Hemoglobin C Disease, Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia
ICD 10: Q89.3
Synonyme: Situs inversus, Situs inversus viscerum, Complete situs inversus, Complete situs inversus viscerum
Name der Erkrankung: Sjögren-Larsson syndrome
ICD 10: Q87.1
Synonyme: Fatty aldehyde dehydrogenase deficiency; Fatty acid alcohol oxidoreductase deficiency
Erkrankung: Smith-McCort Dysplasie
ICD 10: -
Synonyme: Smith-McCort dwarfism, ORPHA 178355
Name der Erkrankung: Sotos syndrome
ICD10: Q87.3
Synonyme: Cerebral gigantism syndrome, Malan syndrome (Sotos syndrome 2)
Erkrankung:
Spinale Muskelatrophie
ICD 10:
G12.0 - Infantile spinal muscle atrophy type l
G12.1. - Spinal muscle atrohpy childhood form type ll
G12.1 - Spinal muscle atrophy juvenile form type lll
Synonyme:
Spinal muscle atrophy type 1: Werdnig-Hoffmanns disease (SMA l)
Spinal muscle atrophy type 2: Dubowitz disease (SMA ll)
Spinal muscle atrophy type 3: Kugelberg-Welanders diease (SMA lll)
Erkrankung: Stickler Syndrom
ICD 10: Q87.5
Synonyme: Marshall-Stickler, Wagner-Stickler hereditary arthro-ophthalmopathy
Erkrankung: Stiff-Person-Syndrom, Stiff-Man-Syndrom
ICD1 10: G25.8
Synonyme: Moersch and Woltman syndrome, stiff limb syndrome, stiff trunk syndrome, PERM (progressive encephalomyelitis with rigidity and myoclonus)
Erkrankung: Stress cardiomyopathy / Stress-Kardiomyopathie
ICD 10: I42
Synonyme: Ballooning cardiomyopathy, broken heart syndrome, Gebrochenes-Herz-Syndrom, Tako-Tsubo-Kardiomyopathie, Tako-Tsubo-Syndrom
Erkrankung: Sturge-Weber Syndrom
ICD 10: Q85.8
Synonyme: 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
Erkrankung: Stüve-Wiedemann Syndrom
ICD 10: Q78.8
Synonyme: In älteren Literaturstellen auch als Schwartz-Jampel Typ 2 Syndrom bezeichnet
Erkrankung: Cyclical (or cyclic) vomiting syndrome
ICD 10: G43.A0
Synonyme: Cyclical vomiting, not intractable; persistent vomiting, cyclical; cyclic vomiting, psychogenic
Name der Erkrankung: Systemic mastocytosis (SM)
ICD 10: C96.2
Synonyme: -
Erkrankung: Systemische Sklerose (SSc)
ICD10: M34
Synonyme: Progressive systemische Sklerose, Sklerodermie, CREST-Syndrom
Erkrankung: Thrombocytopenia-absent radius (TAR) syndrome
ICD 10: Q87.2
Synonyme: 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
Erkrankung: Timothy Syndrom
ICD 10: I45.8
Synonyme: LQT8, Long QT syndrome type 8, Long QT syndrome-syndactly syndrome
Erkrankung: Tracheal Agenesis
ICD 10: Q32.4
Synonyme: -
Name der Erkrankung: Transverse myelitis
ICD 10: G37.3
Synonyme: -
Erkrankung: Treacher-Collins Syndrom
ICD 10: Q75.4
Synonyme: Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein Syndrom
Name der Erkrankung: Trisomie 18, Edwards-Syndrom
Name der Erkrankung: Tuberous sclerosis complex
ICD 10: Q85.1
Synonyme: Tuberous sclerosis, Bourneville disease, Epiloia
Name der Erkrankung: Urea Cycle Disorders
ICD 10: E72.2
Synonyme: Disorders of Urea cycle metabolism, UCDs, Hyperammonaemia
Name: N-acetylglutamate synthase deficiency ICD 10: E72.2
Synonyms: NAGS deficiency, NAGSD
Name: Carbamylphosphate synthetase deficiency ICD 10: E72.2
Synonyms: CPS deficiency, CPS 1 deficiency,
Carbamylphosphate synthetase 1 deficiency, CPS1D
Name: Ornithine Transcarbamylase Deficiency ICD 10: E72.4
Synonyms: OTC deficiency, OTCD
Name: Citrullinemia ICD 10: E72.2
Synonyms: Arginosuccinate Synthetase Deficiency,
ASSD
Name: Argininosuccinate lyase deficiency ICD 10: E72.2
Synonyms: Argininosuccinic aciduria, ASL deficiency,
ASLD
Name: Argininaemia ICD 10: E72.2
Synonyms: Arginase deficiency, Hyperargininemia,
ARG1D
Name: Hyperornithinemia-hyperammonemia-homocitrullinuria OMIM: 230 970
Synonyms: HHH syndrome
Erkrankung: VACTERL-Assoziation
ICD 10: Q87.2
Synonyme: VATERS association, VACTERL association, VACTERL association (ORPHA887), VATER association (ORPHA887), VATER syndrome, ORPHA887
Name der Erkrankung: Van der Woude-Syndrom
ICD 10: Q38.0
Synonyme: VWS, Cleft lip/palate with mucous cysts of lower lip, Lip-pit syndrome, van der Woude syndrome1 (VWS1), van der Woude syndrome2 (VWS2)
Name der Erkrankung: Vein of Galen malformation
ICD10: Q28.2
Synonyme: Great cerebral vein, great vein of Galen, vein of Galen malformation, vein of Galen aneurysmal malformations (VGAMs)
Name der Erkrankung: Von Hippel-Lindau disease
ICD 10: Q85.8
Synonyme: Morbus Hippel-Lindau, Familial cerebelloretinal angiomatosis, Lindau disease, Von Hippel-Lindau syndrome, VHL, VHLD
Ekrankung: Von Willebrand-Krankheit
ICD 10: D68.0
Synonyme: Inherited bleeding disorder
Erkrankung: Waardenburg-Syndrom
ICD 10: Q87.8
Synonyme: Waardenburg Syndrom Typ 1, Typ 2, Typ 3 und Typ 4
Name der Erkrankung: Walker-Warburg syndrome
ICD 10: Q04.3
Synonyme: 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.
Name der Erkrankung: Williams syndrome
ICD 10: ./.
Synonyme: Williams-Beuren syndrome
Erkrankung: Wolf-Hirschhorn syndrome
ICD 10: Q 93.3
OMIM 194190, 602618, 602952, 604407, 605032, 605032, 605830, 606026
Synonyme: 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
Name der Erkrankung: Zhu-Tokita-Takenouchi-Kim syndrome
ICD 10: Q87.8
Synonyme: ZTTK syndrome
Name der Erkrankung: Cystic fibrosis
ICD 10: E84.0
Synonyme: Mucoviscidosis
