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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
195344010 Autosomal dominant hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2618831016 AD - Autosomal dominant en Synonym Active Entire term case sensitive SNOMED CT core module

1150 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Kelch like family member 9 related early-onset distal myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital hereditary endothelial dystrophy type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Handigodu type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly elbow wrist dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cardiac arrhythmia ankyrin-B related Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial focal epilepsy with variable foci Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Branchiootic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant slowed nerve conduction velocity Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Laing early-onset distal myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital myopathy with internal nuclei and atypical cores Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
King Denborough syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Striate palmoplantar keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Focal palmoplantar and gingival keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial thoracic aortic aneurysm and aortic dissection Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Muscle filaminopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
BRCA1 associated protein 1 tumor predisposition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2U Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spheroid body myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Punctate palmoplantar keratoderma type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial multiple benign meningioma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant polycystic kidney disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Metabolic myopathy due to lactate transporter defect Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Multiple epiphyseal dysplasia due to collagen 9 anomaly Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hypertension due to gain-of-function mutation in mineralocorticoid receptor Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Trichodysplasia xeroderma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Generalized basaloid follicular hamartoma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Radio-renal syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Multicentric carpotarsal osteolysis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Moebius syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary benign acanthosis nigricans Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial generalized lentiginosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Centrofacial lentiginosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ataxia pancytopenia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hollow viscus myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Late-onset distal myopathy Markesbery Griggs type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial bicuspid aortic valve Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Desmin-related myofibrillar myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Retinal macular dystrophy type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type B2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Distal hereditary motor neuropathy type 1 Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Choanal atresia with radial ray hypoplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Benign familial mesial temporal lobe epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Occult macular dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary inclusion body myopathy type 4 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Adult-onset distal myopathy due to valosin containing protein mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
2p13.2 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Distal myopathy Welander type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant neovascular inflammatory vitreoretinopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
11p15.4 microduplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
3q27.3 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital Horner syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial omphalocele syndrome with facial dysmorphism Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hypertrichosis cubiti Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Tetramelic monodactyly Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Distal hereditary motor neuropathy type 7 Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary motor and sensory neuropathy type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Dentin dysplasia with sclerotic bone syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant severe congenital neutropenia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Postaxial tetramelic oligodactyly Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary site-specific ovarian cancer syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Edinburgh malformation syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hidrotic ectodermal dysplasia Christianson Fourie type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy due to lamin A/C mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Parietal foramina with clavicular hypoplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hyperzincemia and hypercalprotectinemia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Ptosis and vocal cord paralysis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary progressive mucinous histiocytosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant multiple pterygium syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Optic nerve edema, splenomegaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Thrombocythemia with distal limb defect Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Gastric adenocarcinoma and proximal polyposis of stomach Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Drash syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Xeroderma, talipes and enamel defect syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant childhood-onset proximal spinal muscular atrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
East Texas bleeding disorder Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2Q Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Lamin A/C related cardiocutaneous progeria syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Oligodontia and cancer predisposition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Non-hypoproteinemic hypertrophic gastropathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier

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