autosomaal recessieve hereditaire aandoening	congenitale oculocutane hypopigmentatie	dysplasie met verminderde botdichtheid	genetische aandoening van huidpigmentatie	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van integumentum	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis
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syndroom van osteoporose en oculocutane hypopigmentatie (aandoening)
	syndroom van osteoporose en oculocutane hypopigmentatie
	syndroom van Hernández-Fragoso
	Osteoporosis and oculocutaneous hypopigmentation syndrome
	Hernandez Fragoso syndrome
	Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive.

Id	722113001
Status	Primitive

Associated morphology	hypopigmentatie
Finding site	structuur van bulbus oculi
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	hypopigmentatie
Finding site	structuur van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dysplasie
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	onder referentiebereik
Interprets	botdensitometrie

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q79.8
Term	Overige gespecificeerde congenitale misvormingen van botspierstelsel

Target	L81.9
Term	Pigmentatiestoornis, niet gespecificeerd

SNOMED CT to Orphanet simple map

2786

SNOMED CT to ICD-10 extended map

Target	Q79.8
Rule	TRUE
Advice	ALWAYS Q79.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	L81.9
Rule	TRUE
Advice	ALWAYS L81.9
Correlation	SNOMED CT source code to target map code correlation not specified