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SNOMED CT

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/SNOMEDCT/715952000
http://purl.bioontology.org/ontology/SNOMEDCT/715952000
Preferred Name

Waardenburg Shah syndrome
Definitions
The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor.
Synonyms
Waardenburg syndrome co-occurrent with Hirschsprung disease
Waardenburg Shah syndrome (disorder)
Shah Waardenburg syndrome
Waardenburg syndrome type 4
Waardenburg Hirschsprung syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

The association of Waardenburg syndrome and Hirschsprung disease. Patients present in the neonatal period with pigmentary anomalies (including white forelock, white eyebrows and eyelashes, white skin patches and pigmentary anomalies of the irides) in association with intestinal obstruction. Neurosensorial deafness is common and early, and may be unilateral. Psychomotor development is normal. Three disease-causing genes have been identified so far: EDNRB (13q22.3) encoding the endothelin-B receptor, EDN3 (20q13.32) encoding an endothelin receptor ligand and SOX10 (22q13.1) encoding the SOX10 transcription factor.
altLabel
Waardenburg syndrome co-occurrent with Hirschsprung disease
Waardenburg Shah syndrome (disorder)
Shah Waardenburg syndrome
Waardenburg syndrome type 4
Waardenburg Hirschsprung syndrome
prefLabel
Waardenburg Shah syndrome
Type ID
900000000000003001
900000000000013009
CASE SIGNIFICANCE ID
900000000000017005
notation
715952000
Effective time
20160731
Active
1
Has finding site
INACTIVATION INDICATOR
900000000000483008
interprets
Has pathological process
subClassOf
Semantic type UMLS property
Has interpretation
type
Subset member
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~XUt8u
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q89.8
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q43.1
900000000000490003~VALUEID~900000000000483008
6011000124106~MAPPRIORITY~1
6011000124106~MAPADVICE~ALWAYS Q89.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q43.1
447562003~MAPADVICE~ALWAYS Q87.8
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
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DEFINITION STATUS ID
900000000000074008
tui
T047
CTV3ID
XUt8u
Occurs in
cui
C1848519
Has associated morphology
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