Autosomal recessive hereditary disorder	Congenital anomaly of eye	Congenital deficiency of pigment of skin	Developmental hereditary disorder	Genetic disorder of skin pigmentation	Hearing loss associated with syndrome	Hereditary disorder of the integument	Hereditary disorder of the visual system	Hereditary hearing loss	Multiple system malformation syndrome
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Deaf blind hypopigmentation syndrome Yemenite type (disorder)
	Deaf blind hypopigmentation syndrome Yemenite type
	Warburg Thomsen syndrome
	Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.

Id	721084001
Status	Primitive

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

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

Interprets

Finding site

Structure of auditory system

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to ICD-10 extended map

Target	Q13.8
Rule	TRUE
Advice	ALWAYS Q13.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified