312557001: Multisystem disorder W-X (navigational concept)

SNOMED CT Concept\Special concept\Navigational concept\Multisystem disorder W-X

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

456303013 Multisystem disorder W-X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1187870012 Multisystem disorder W-X (navigational concept) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multisystem disorder W-X	Is a	multisystemsygdom	false	Inferred relationship	Some
Multisystem disorder W-X	Is a	Navigational concept	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	Is a	False	Multisystem disorder W-X	Inferred relationship	Some
Wolcott-Rallison dysplasia (disorder)	Is a	False	Multisystem disorder W-X	Inferred relationship	Some
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	Is a	False	Multisystem disorder W-X	Inferred relationship	Some
Weaver syndrome	Is a	False	Multisystem disorder W-X	Inferred relationship	Some
Hereditary coproporphyria	Is a	False	Multisystem disorder W-X	Inferred relationship	Some
Wildervanck syndrome	Is a	False	Multisystem disorder W-X	Inferred relationship	Some

This concept is not in any reference sets