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720571006: Brachydactyly type A7 (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
3321281016 Brachydactyly type A7 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321282011 Brachydactyly type A7 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321283018 Brachydactyly Smorgasbord type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402407013 A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402408015 A rare dysostosis with brachydactyly characterised by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989. 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 A7 (disorder) Is a Brachydactyly true Inferred relationship Some
Brachydactyly type A7 (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 1
Brachydactyly type A7 (disorder) Occurrence Congenital true Inferred relationship Some 1
Brachydactyly type A7 (disorder) Finding site Entire digit true Inferred relationship Some 1
Brachydactyly type A7 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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