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719041000: Hip dysplasia with enchondromata and ecchondroma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3314766011 Upington disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314767019 Hip dysplasia with enchondromata and ecchondroma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314768012 Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314769016 Upington disease has characteristics of Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Upington disease morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Upington disease localisation d'une constatation (attribut) acétabulum (structure corporelle) true Inferred relationship Some 1
Upington disease survenue (attribut) congénital true Inferred relationship Some 1
Upington disease Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Upington disease morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Upington disease localisation d'une constatation (attribut) Cartilage structure (body structure) true Inferred relationship Some 2
Upington disease est un(e) (attribut) Osteochondropathy true Inferred relationship Some
Upington disease morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Upington disease Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Upington disease est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Upington disease est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Upington disease est un(e) (attribut) dysplasie congénitale d'une hanche true Inferred relationship Some
Upington disease est un(e) (attribut) Disorganised development of cartilaginous and fibrous components of the skeleton true Inferred relationship Some
Upington disease est un(e) (attribut) Connective tissue hereditary disorder true Inferred relationship Some
Upington disease est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Upington disease morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Upington disease survenue (attribut) congénital true Inferred relationship Some 2
Upington disease localisation d'une constatation (attribut) acétabulum (structure corporelle) false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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