autosomaal recessieve hereditaire aandoening	congenitale afwijking van retina	congenitale hypertrichose	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis	hereditaire retinadystrofie
\|	\|	\|	\|	\|	\|

syndroom van amaurose en hypertrichose (aandoening)
	syndroom van amaurose en hypertrichose
	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.

Id	720983002
Status	Primitive

Associated morphology	verandering in groei
Finding site	structuur van pilus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dystrofie
Finding site	structuur van retina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	H35.5
Term	Hereditaire retinadystrofie

SNOMED CT to Orphanet simple map

1021

SNOMED CT to ICD-10 extended map

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