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719203001: Spondyloepiphyseal dysplasia Kimberley type (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
3315405017 Spondyloepiphyseal dysplasia Kimberley type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315406016 Spondyloepiphyseal dysplasia Kimberley type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401999011 Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402000017 Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterised by short stature and premature degenerative arthropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315405017 Spondyloepiphyseal dysplasia Kimberley type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315406016 Spondyloepiphyseal dysplasia Kimberley type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315407013 Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401999011 Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402000017 Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterised by short stature and premature degenerative arthropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3421651001000119 Dysplasie, spondyloepiphysäre, Typ Kimberley de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997931000172113 dysplasie spondylo-épiphysaire type Kimberley fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997931000172113 dysplasie spondylo-épiphysaire type Kimberley fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421651001000119 Dysplasie, spondyloepiphysäre, Typ Kimberley 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
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a Spondyloepiphyseal dysplasia congenita group (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Kimberley type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Kimberley type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Kimberley type (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Kimberley type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Kimberley type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Kimberley type (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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