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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
3902721000052114 Upingtons sjukdom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Upington disease Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Upington disease Is a Congenital hip dysplasia true Inferred relationship Some
Upington disease Is a Disorganized development of cartilaginous and fibrous components of the skeleton true Inferred relationship Some
Upington disease Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Upington disease Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Upington disease Associated morphology kongenital dysplasi false Inferred relationship Some 2
Upington disease Occurrence Congenital true Inferred relationship Some 2
Upington disease Finding site Bone structure of acetabulum false Inferred relationship Some 2
Upington disease Associated morphology kongenital dysplasi false Inferred relationship Some 1
Upington disease Finding site Bone structure of acetabulum true Inferred relationship Some 1
Upington disease Occurrence Congenital true Inferred relationship Some 1
Upington disease Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Upington disease Associated morphology Dysplasia true Inferred relationship Some 1
Upington disease Finding site Cartilage structure (body structure) true Inferred relationship Some 2
Upington disease Is a Osteochondropathy true Inferred relationship Some
Upington disease Associated morphology Dysplasia true Inferred relationship Some 2
Upington disease Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Upington disease Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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