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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/47434006
http://purl.bioontology.org/ontology/SNOMEDCT/47434006
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|---|---|
| Preferred Name | Waardenburg syndrome |
| Definitions |
A rare genetic multiple congenital anomalies characterised by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS).
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).
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS).
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).
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| Synonyms |
Waardenburg syndrome (disorder)
Waardenburg's syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic multiple congenital anomalies characterised by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). 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). A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). 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). |
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| prefLabel | Waardenburg syndrome
|
| altLabel |
Waardenburg syndrome (disorder)
Waardenburg's syndrome
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20020131
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| cui | C3266898
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| Has pathological process | |
| CTV3ID | PKy54
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
900000000000017005
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| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 47434006
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| INACTIVATION INDICATOR |
900000000000485001
723277005
|
| type | |
| subClassOf |
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| Subset member | 6011000124106~MAPADVICE~IF WAARDENBURG SYNDROME TYPE 3 CHOOSE Q87.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~E70.319
6011000124106~MAPTARGET~Q89.89
900000000000490003~VALUEID~723277005
447562003~MAPTARGET~Q89.8
6011000124106~MAPPRIORITY~4
6011000124106~MAPADVICE~IF WAARDENBURG SYNDROME TYPE 1 CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPRULE~IFA 715952000 | Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder) |
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPADVICE~IF WAARDENBURG SHAH SYNDROME CHOOSE Q89.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~G60.8
6011000124106~MAPADVICE~IF PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, HIRSCHSPRUNG DISEASE CHOOSE Q43.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q87.2
447562003~MAPGROUP~1
6011000124106~MAPTARGET~Q87.89
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q89.8
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPRULE~IFA 765325002 | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease |
6011000124106~MAPADVICE~IF PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, HIRSCHSPRUNG DISEASE CHOOSE G60.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPADVICE~IF OCULAR ALBINISM WITH CONGENITAL SENSORINEURAL DEAFNESS CHOOSE E70.319 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPRULE~IFA 1010636000 | Waardenburg syndrome type 2 |
6011000124106~MAPADVICE~IF WAARDENBURG SHAH SYNDROME CHOOSE Q89.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPADVICE~IF WAARDENBURG SYNDROME TYPE 3 CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000508004~ACCEPTABILITYID~900000000000548007
900000000000490003~VALUEID~900000000000485001
6011000124106~MAPRULE~IFA 1010638004 | Waardenburg syndrome type 3 |
447562003~MAPPRIORITY~1
447562003~MAPADVICE~ALWAYS Q89.8
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~IF OCULAR ALBINISM WITH CONGENITAL SENSORINEURAL DEAFNESS CHOOSE H90.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPPRIORITY~5
447562003~MAPTARGET~E70.3
6011000124106~MAPADVICE~IF WAARDENBURG SYNDROME TYPE 3 CHOOSE E70.39 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPGROUP~4
6011000124106~MAPADVICE~ALWAYS Q89.89
6011000124106~MAPADVICE~IF WAARDENBURG SHAH SYNDROME CHOOSE Q43.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPTARGET~Q43.1
6011000124106~MAPADVICE~IF WAARDENBURG SYNDROME CO-OCCURRENT WITH HIRSCHSPRUNG DISEASE CHOOSE Q43.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPRULE~IFA 715952000 | Waardenburg Shah syndrome |
6011000124106~MAPPRIORITY~1
6011000124106~MAPADVICE~ALWAYS Q89.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPADVICE~IF PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, HIRSCHSPRUNG DISEASE CHOOSE E75.29 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPPRIORITY~6
6011000124106~MAPADVICE~IF PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, HIRSCHSPRUNG DISEASE CHOOSE Q89.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPRULE~IFA 1010606009 | Waardenburg syndrome type 1 |
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~E70.39
6011000124106~MAPADVICE~IF WAARDENBURG SYNDROME TYPE 2 CHOOSE Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000497000~MAPTARGET~PKy54
6011000124106~MAPRULE~IFA 773575001 | Ocular albinism with congenital sensorineural deafness |
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPPRIORITY~3
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPADVICE~ALWAYS E70.3
6011000124106~MAPPRIORITY~2
6011000124106~MAPTARGET~E75.29
6011000124106~MAPTARGET~H90.5
6011000124106~MAPADVICE~IF PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, HIRSCHSPRUNG DISEASE CHOOSE Q89.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPRULE~IFA 237918004 | Waardenburg syndrome type 3 |
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