Autosomal recessive hereditary disorder	Congenital anomaly of retina	Congenital hypertrichosis	Developmental hereditary disorder	Hereditary disorder of the integument	Hereditary retinal dystrophy
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Amaurosis hypertrichosis syndrome (disorder)
	Amaurosis hypertrichosis syndrome
	Syndrome with characteristics of severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophrys and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents.
	syndroom van amaurose en hypertrichose

Id	720983002
Status	Primitive

Associated morphology	Growth alteration
Finding site	Hair structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dystrophy
Finding site	Retinal structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	H35.5
Rule	TRUE
Advice	ALWAYS H35.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified