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719159004: syndactylie type 5 (trouble)


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
1002971000172116 syndactylie type 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3315203014 Syndactyly type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315204015 Syndactyly type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753621000241115 syndactylie type 5 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
876191000172113 syndactylie postaxiale avec synostose métacarpienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3315206018 A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait. 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
syndactylie type 5 Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndactylie type 5 est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndactylie type 5 est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
syndactylie type 5 est un(e) (attribut) Syndactyly (disorder) true Inferred relationship Some
syndactylie type 5 morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 1
syndactylie type 5 survenue (attribut) congénital true Inferred relationship Some 1
syndactylie type 5 localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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