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715723008: Syndactyly type 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303519013 Syndactyly type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303520019 Syndactyly type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401051014 A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401052019 A rare non-syndromic syndactyly characterised by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. 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
Syndactyly type 1 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Syndactyly type 1 (disorder) Is a Syndactyly (disorder) true Inferred relationship Some
Syndactyly type 1 (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Syndactyly type 1 (disorder) Occurrence Congenital true Inferred relationship Some 1
Syndactyly type 1 (disorder) Finding site Digit structure true Inferred relationship Some 1
Syndactyly type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Syndactyly type 1 (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Syndactyly type 1 (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) 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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