oculocutaan albinisme
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oculocutaan albinisme type 5 (aandoening)
oculocutaan albinisme type 5
OCA5
Oculocutaneous albinism type 5
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.
Id722057000
StatusPrimitive
Associated morphologyverminderde melaninepigmentatie
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyverminderde melaninepigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map370091
SNOMED CT to ICD-10 extended map
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified