oculocutaan albinisme type 7 (aandoening)
oculocutaan albinisme type 7
Oculocutaneous albinism type 7
A form of oculocutaneous albinism with characteristics of skin and hair hypopigmentation, nystagmus and iris transillumination. The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin. Patients have a light skin pigmentation that is reported as lighter than their relatives. Caused by mutation in the C10orf11 gene (10q22.3) encoding a 198 amino acid protein. Currently, little is known about the biological function of this gene in humans and its role in this disease pathogenesis.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
SNOMED CT to Orphanet simple map352745
SNOMED CT to ICD-10 extended map
AdviceALWAYS E70.3
CorrelationSNOMED CT source code to target map code correlation not specified