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1010606009: syndroom van Waardenburg type 1 (aandoening)


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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Waardenburg syndrome type 1 (disorder) Is a Waardenburg syndrome true Inferred relationship Some
Waardenburg syndrome type 1 (disorder) Associated morphology Hypopigmentation true Inferred relationship Some 1
Waardenburg syndrome type 1 (disorder) Finding site Skin structure false Inferred relationship Some 1
Waardenburg syndrome type 1 (disorder) Occurrence Congenital true Inferred relationship Some 1
Waardenburg syndrome type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Waardenburg syndrome type 1 (disorder) Finding site Ear structure false Inferred relationship Some 2
Waardenburg syndrome type 1 (disorder) Occurrence Congenital true Inferred relationship Some 2
Waardenburg syndrome type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Waardenburg syndrome type 1 (disorder) Interprets Hearing true Inferred relationship Some 3
Waardenburg syndrome type 1 (disorder) Has interpretation Decreased true Inferred relationship Some 3
Waardenburg syndrome type 1 (disorder) Is a Congenital oculocutaneous hypopigmentation true Inferred relationship Some
Waardenburg syndrome type 1 (disorder) Is a Dystopia canthorum (disorder) true Inferred relationship Some
Waardenburg syndrome type 1 (disorder) Finding site Medial canthus structure true Inferred relationship Some 2
Waardenburg syndrome type 1 (disorder) Associated morphology Lateral displacement true Inferred relationship Some 2
Waardenburg syndrome type 1 (disorder) Occurrence Congenital true Inferred relationship Some 4
Waardenburg syndrome type 1 (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 4
Waardenburg syndrome type 1 (disorder) Occurrence Congenital true Inferred relationship Some 5
Waardenburg syndrome type 1 (disorder) Finding site Eye structure true Inferred relationship Some 5
Waardenburg syndrome type 1 (disorder) Associated morphology Hypopigmentation true Inferred relationship Some 5
Waardenburg syndrome type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Waardenburg syndrome type 1 (disorder) Is a Congenital anomaly of hair true Inferred relationship Some
Waardenburg syndrome type 1 (disorder) Finding site Hair structure (body 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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