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


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3314766011 Upington disease en Synonym Active Case insensitive SNOMED CT core
3314767019 Hip dysplasia with enchondromata and ecchondroma syndrome en Synonym Active Case insensitive SNOMED CT core
3314768012 Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Upington disease Associated morphology Congenital dysplasia 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 Pathological developmental process true Inferred relationship Some 1
Upington disease Associated morphology Dysplasia true Inferred relationship Some 1
Upington disease Finding site Cartilage 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 Pathological developmental process true Inferred relationship Some 2
Upington disease Is a Developmental hereditary disorder true Inferred relationship Some
Upington disease Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Upington disease Is a Developmental hip dysplasia true Inferred relationship Some
Upington disease Is a Disorganised development of cartilaginous and fibrous components of the skeleton true Inferred relationship Some
Upington disease Is a Inherited disorder of connective tissue true Inferred relationship Some
Upington disease Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Upington disease Associated morphology Congenital dysplasia 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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Strength reference set

Description inactivation indicator reference set

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