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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
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
3321284012 A form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. It has been reported in one family. en Definition Active Entire term case sensitive (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
3443561001000119 Brachydaktylie Typ A7 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962571000172118 brachydactylie de Smorgasbord fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978021000172115 brachydactylie type A7 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962571000172118 brachydactylie de Smorgasbord fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978021000172115 brachydactylie type A7 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443561001000119 Brachydaktylie Typ A7 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
Brachydactyly type A7 Is a Brachydactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type A7 Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type A7 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type A7 Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type A7 Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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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