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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
5401932017 A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401933010 A rare primary bone dysplasia characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314766011 Upington disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
5401932017 A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401933010 A rare primary bone dysplasia characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420201001000111 Upington-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305861000241118 syndrome de dysplasie de la hanche, enchondromatose et ecchondromatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305871000241114 maladie d'Upington fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305861000241118 syndrome de dysplasie de la hanche, enchondromatose et ecchondromatose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6305871000241114 maladie d'Upington fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420201001000111 Upington-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Is a Congenital hip dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Is a Disorganised development of cartilaginous and fibrous components of the skeleton true Inferred relationship Existential restriction modifier (core metadata concept)
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Finding site Bone structure of acetabulum false Inferred relationship Existential restriction modifier (core metadata concept) 2
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Finding site Bone structure of acetabulum true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Finding site Cartilage structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Is a Osteochondropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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