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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
19337016 Dominant hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
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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