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719158007: Syndactyly type 4 (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
3315199014 Syndactyly type 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315200012 Syndactyly type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315201011 Haas type syndactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315202016 A very rare congenital distal limb malformation with characteristics of complete bilateral syndactyly involving all digits 1 to 5. So far, only four reports have been described in the literature. A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The SD4 locus maps to 7q36. The condition is inherited as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3890691000052111 syndaktyli, typ 4 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Syndactyly type 4 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Syndactyly type 4 (disorder) Is a Syndactyly (disorder) true Inferred relationship Some
Syndactyly type 4 (disorder) Associated morphology Congenital abnormal fusion true Inferred relationship Some 1
Syndactyly type 4 (disorder) Occurrence Congenital true Inferred relationship Some 1
Syndactyly type 4 (disorder) Finding site Digit structure true Inferred relationship Some 1
Syndactyly type 4 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Syndactyly type 4 (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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