1010638004: Waardenburg syndrome type 3 (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4213391010 Waardenburg syndrome type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4213392015 Waardenburg syndrome type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4213391010 Waardenburg syndrome type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4213392015 Waardenburg syndrome type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Waardenburg syndrome type 3	Is a	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).	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Waardenburg syndrome type 3	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Waardenburg syndrome type 3	Interprets	Hearing	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)