FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

719159004: Syndactyly type 5 (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
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
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
Syndactyly type 5 (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Syndactyly type 5 (disorder) Is a Syndactyly (disorder) true Inferred relationship Some
Syndactyly type 5 (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Syndactyly type 5 (disorder) Occurrence Congenital true Inferred relationship Some 1
Syndactyly type 5 (disorder) Finding site Digit structure true Inferred relationship Some 1
Syndactyly type 5 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Syndactyly type 5 (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Syndactyly type 5 (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start