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720416007: Acrocapitofemoral dysplasia (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
3320688014 Acrocapitofemoral dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320689018 Acrocapitofemoral dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402320010 A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402321014 A rare skeletal dysplasia, characterised clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. 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
Acrocapitofemoral dysplasia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) Is a Acromesomelic dysplasia syndrome true Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Acrocapitofemoral dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Acrocapitofemoral dysplasia (disorder) Finding site Bone structure true Inferred relationship Some 1
Acrocapitofemoral dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acrocapitofemoral dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Acrocapitofemoral dysplasia (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)

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