Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4213316016 | Waardenburg syndrome type 1 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4213317013 | Waardenburg syndrome type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5143441014 | Waardenburg syndrome type I | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
12125821000146113 | syndroom van Waardenburg type 1 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12125831000146110 | syndroom van Waardenburg type 1 (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12248911000146119 | Waardenburg-syndroom type 1 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
5143457014 | A subtype of Waardenburg syndrome (WS) with characteristics of congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. Caused by a heterozygous mutation in the paired box-containing PAX3 gene on chromosome 2q36.1. In the majority of cases, WS1 is transmitted as an autosomal dominant disorder with a large variable inter and intrafamilial expressivity. Some affected patients present with a de novo mutation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets