Digestive system hereditary disorder	Disorder of sensory function	Hirschsprung's disease	Inherited autonomic nervous system disorder	Waardenburg's syndrome
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Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)
	Waardenburg Shah syndrome
	Waardenburg syndrome co-occurrent with Hirschsprung disease Shah Waardenburg syndrome Waardenburg syndrome type 4 Waardenburg Hirschsprung syndrome
	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.
	Waardenburg-syndroom gelijktijdig met ziekte van Hirschsprung
	Shah-Waardenburg-syndroom syndroom van Waardenburg-Shah syndroom van Waardenburg gelijktijdig met ziekte van Hirschsprung Waardenburg-syndroom type 4

Id	715952000
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Autonomic nerve structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Structure of peripheral part of autonomic nervous system
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dilatation
Finding site	Large intestine part
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypertrophy
Finding site	Large intestine part
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Ear structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypopigmentation
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified