oculocutaan albinisme
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oculocutaan albinisme type 6 (aandoening)
oculocutaan albinisme type 6
OCA6
Oculocutaneous albinism type 6
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.
Id
722058005
Status
Primitive
Associated morphology
verminderde melaninepigmentatie
Finding site
structuur van bulbus oculi
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Associated morphology
verminderde melaninepigmentatie
Finding site
structuur van huid
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
E70.3
Term
Albinisme
SNOMED CT to Orphanet simple map
370097
SNOMED CT to ICD-10 extended map
Target
E70.3
Rule
TRUE
Advice
ALWAYS E70.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation
SNOMED CT source code to target map code correlation not specified