autosomaal recessieve hereditaire aandoening	ectodermale dysplasie met afwijkingen van haren en gebitselementen	hereditaire aandoening van gebitselement	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis
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oculo-osteocutaan syndroom (aandoening)
	oculo-osteocutaan syndroom
	Oculoosteocutaneous syndrome
	This syndrome has characteristics of congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.

Id	722061006
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van pilus
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	dysplasie
Finding site	structuur van ectoderm
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	Q87.5
Term	Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen

SNOMED CT to Orphanet simple map

2713

SNOMED CT to ICD-10 extended map

Target	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified