11164009: Autosomal dominant hereditary disorder (disorder)

SNOMED CT Concept\constatation clinique\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder

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

Descriptions:

Id Description Lang Type Status Case? Module

195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hereditary disorder	est un(e) (attribut)	Autosomal hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Postaxial tetramelic oligodactyly	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary site-specific ovarian cancer syndrome (disorder)	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Edinburgh malformation syndrome (disorder)	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital muscular dystrophy due to lamin A/C mutation (disorder)	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
foramen pariétal avechypoplasie claviculaire	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyperzincemia and hypercalprotectinemia (disorder)	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Ptosis and vocal cord paralysis syndrome (disorder)	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary progressive mucinous histiocytosis	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
syndrome des ptérygiums multiples autosomique dominant	est un(e) (attribut)	True	Autosomal dominant hereditary disorder	Inferred relationship	Some

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This concept is not in any reference sets