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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


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 Some
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a Spondyloepiphyseal dysplasia congenita group (disorder) true Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Spondyloepiphyseal dysplasia Kimberley type (disorder) Occurrence Congenital true Inferred relationship Some 1
Spondyloepiphyseal dysplasia Kimberley type (disorder) Finding site Bone structure true Inferred relationship Some 1
Spondyloepiphyseal dysplasia Kimberley type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spondyloepiphyseal dysplasia Kimberley type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

GB English

US English

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