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47434006: Waardenburg syndrome (disorder)

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
79083016 Waardenburg's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2841707016 Waardenburg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5143440010 Waardenburg syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657916012 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777420016 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Waardenburg syndrome Is a Multisystem disorder W-X false Inferred relationship Some
Waardenburg syndrome Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Some
Waardenburg syndrome Occurrence Congenital false Inferred relationship Some
Waardenburg syndrome Associated morphology Congenital malformation false Inferred relationship Some
Waardenburg syndrome Occurrence Congenital true Inferred relationship Some 1
Waardenburg syndrome Associated morphology Developmental anomaly false Inferred relationship Some 1
Waardenburg syndrome Finding site Face structure false Inferred relationship Some 1
Waardenburg syndrome Finding site Ear structure false Inferred relationship Some 2
Waardenburg syndrome Is a Congenital deficiency of pigment of skin true Inferred relationship Some
Waardenburg syndrome Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Some
Waardenburg syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Waardenburg syndrome Is a Auditory system hereditary disorder false Inferred relationship Some
Waardenburg syndrome Associated morphology Congenital hypopigmentation false Inferred relationship Some 1
Waardenburg syndrome Finding site Skin structure true Inferred relationship Some 1
Waardenburg syndrome Is a Autosomal hereditary disorder false Inferred relationship Some
Waardenburg syndrome Occurrence Congenital true Inferred relationship Some 2
Waardenburg syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Waardenburg syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Waardenburg syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Waardenburg syndrome Associated morphology Hypopigmentation true Inferred relationship Some 1
Waardenburg syndrome Interprets Hearing true Inferred relationship Some 3
Waardenburg syndrome Is a Disorder of ear false Inferred relationship Some
Waardenburg syndrome Is a Congenital hearing disorder true Inferred relationship Some
Waardenburg syndrome Is a Developmental hereditary disorder false Inferred relationship Some
Waardenburg syndrome Is a Decreased hearing (finding) true Inferred relationship Some
Waardenburg syndrome Has interpretation Decreased true Inferred relationship Some 3
Waardenburg syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Waardenburg Shah syndrome Is a True Waardenburg syndrome Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Waardenburg syndrome Inferred relationship Some
Waardenburg syndrome type 3 Is a False Waardenburg syndrome Inferred relationship Some
Waardenburg syndrome type 1 (disorder) Is a True Waardenburg syndrome Inferred relationship Some
Waardenburg syndrome type 2 (disorder) Is a True Waardenburg syndrome Inferred relationship Some
Waardenburg syndrome type 3 (disorder) Is a True Waardenburg syndrome Inferred relationship Some

This concept is not in any reference sets

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