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720570007: Brachydactyly type A5 (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
3321278014 Brachydactyly type A5 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321279018 Brachydactyly type A5 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321280015 A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. 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
Brachydactyly type A5 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Brachydactyly type A5 (disorder) Is a Brachydactyly true Inferred relationship Some
Brachydactyly type A5 (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 1
Brachydactyly type A5 (disorder) Occurrence Congenital true Inferred relationship Some 1
Brachydactyly type A5 (disorder) Finding site Entire digit true Inferred relationship Some 1
Brachydactyly type A5 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachydactyly type A5 (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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