Code System Concept

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Code System Concept

Code System Concept Code	237918004
Code System Concept Name	Waardenburg syndrome type 3 (disorder)
Code System Preferred Concept Name	Waardenburg syndrome type 3 (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
2840009017	Klein-Waardenberg syndrome	Active	Synonym	false	false
356581013	Klein-Waardenberg's syndrome	Active	Synonym	false	false
5143351011	Waardenburg syndrome type 3	Active	Synonym	false	false
5143352016	Waardenburg syndrome type III	Active	Synonym	false	false
5143353014	Waardenburg syndrome with limb anomalies	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Albinism (disorder) {15890002 , SNOMED-CT } Congenital anomaly of limb (disorder) {60475009 , SNOMED-CT } Congenital anomaly of musculoskeletal system (disorder) {73573004 , SNOMED-CT } Congenital deficiency of pigment of skin (disorder) {1953005 , SNOMED-CT } Congenital malformation syndromes involving limbs (disorder) {205812004 , SNOMED-CT } Congenital sensorineural hearing loss (disorder) {700453005 , SNOMED-CT } Dystopia canthorum (disorder) {726407000 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Multiple malformation syndrome with limb defect as major feature (disorder) {41443008 , SNOMED-CT } Multisystem disorder (disorder) {281867008 , SNOMED-CT } Multisystem disorder W-X (navigational concept) {312557001 , SNOMED-CT } Site-specific disorder of skin (disorder) {238907001 , SNOMED-CT } Waardenburg syndrome (disorder) {47434006 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,