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312557001: Multisystem disorder W-X (navigational concept)

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
456303013 Multisystem disorder W-X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
709239016 Multisystem disorder W-X (disorder) en Fully specified name 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
334691000077116 trouble multisystémique W-X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
334691000077116 trouble multisystémique W-X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multisystem disorder W-X Is a trouble multisytémique false Inferred relationship Existential restriction modifier (core metadata concept)
Multisystem disorder W-X Is a Navigational concept (navigational concept) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Waardenburg syndrome type 3 (disorder) Is a False Multisystem disorder W-X Inferred relationship Existential restriction modifier (core metadata concept)
Wolcott-Rallison dysplasia Is a False Multisystem disorder W-X Inferred relationship Existential restriction modifier (core metadata concept)
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 greying 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 Existential restriction modifier (core metadata concept)
Weaver syndrome Is a False Multisystem disorder W-X Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary coproporphyria Is a False Multisystem disorder W-X Inferred relationship Existential restriction modifier (core metadata concept)
Wildervanck syndrome (disorder) Is a False Multisystem disorder W-X Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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