oculair albinisme	verworven perceptief gehoorverlies	X-gebonden hereditaire recessieve aandoening	X-gebonden perceptief gehoorverlies
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oculair albinisme met laat optredende sensorineurale doofheid (aandoening)
	oculair albinisme met laat optredende sensorineurale doofheid
	Ocular albinism with late-onset sensorineural deafness
	A rare X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date with characteristics of severe visual impairment, translucent pale-blue irides, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.

Id	722054007
Status	Primitive

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

Has interpretation	gestoord
Interprets	gehoorfunctie

Finding site	structuur van auditief systeem
Occurrence	volwassenheid

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E70.3
Term	Albinisme

Target	H90.5
Term	Gehoorverlies door perceptiestoornis, niet gespecificeerd

SNOMED CT to Orphanet simple map

1000

SNOMED CT to ICD-10 extended map

Target	E70.3
Rule	TRUE
Advice	ALWAYS E70.3
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
Correlation	SNOMED CT source code to target map code correlation not specified