autosomaal recessieve retinitis pigmentosa	congenitale afwijking van retina	ectodermale dysplasie met afwijkingen aan haren, gebitselementen en nagels	genetische nagelaandoening	hereditaire aandoening van gebitselement	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis
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oculotrichodysplasie (aandoening)
	oculotrichodysplasie
	Oculotrichodysplasia
	Cecatto de Lima Pinheiro syndrome
	This disease has characteristics of retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.

Id	722062004
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van nagel
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van gebitselement
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van pilus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dysplasie
Finding site	structuur van ectoderm
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	Q82.4
Term	Ectodermale dysplasie (anhidrotisch)

Target	H35.5
Term	Hereditaire retinadystrofie

SNOMED CT to Orphanet simple map

2718

SNOMED CT to ICD-10 extended map

Target	Q82.4
Rule	TRUE
Advice	ALWAYS Q82.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H35.5
Rule	TRUE
Advice	ALWAYS H35.5
Correlation	SNOMED CT source code to target map code correlation not specified