Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3705805013 | Ectodermal dysplasia syndactyly syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3705806014 | Ectodermal dysplasia syndactyly syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3705807017 | A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23. | en | Definition | Active | Case sensitive | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set