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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
2p13.2 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distal myopathy Welander type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a True Autosomal dominant hereditary disorder Inferred relationship Some
11p15.4 microduplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
3q27.3 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital Horner syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial omphalocele syndrome with facial dysmorphism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypertrichosis cubiti Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Tetramelic monodactyly Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distal hereditary motor neuropathy type 7 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary motor and sensory neuropathy type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dentin dysplasia with sclerotic bone syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant severe congenital neutropaenia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Postaxial tetramelic oligodactyly Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Edinburgh malformation syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital muscular dystrophy due to LMNA mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Parietal foramina with clavicular hypoplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperzincaemia and hypercalprotectinaemia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ptosis and vocal cord paralysis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary progressive mucinous histiocytosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant multiple pterygium syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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