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Åland-eiland-oogziekte (aandoening)
Åland-eiland-oogziekte
AIED
oculair albinisme van Forsius-Eriksson-type
Forsius-Eriksson-syndroom
Aland Islands eye disease
Forsius Eriksson type ocular albinism
Forsius Eriksson syndrome
An X-linked recessive retinal disease with characteristics of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. A very rare disease originally reported in a family from Aland Island in the Bothnia Sea. Caused by mutations in the CACNA1F gene. Some mutations in CACNAF1 are associated with CSNB2 suggesting allelism of the two disorders.
Id725168006
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map178333
SNOMED CT to ICD-10 extended map
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified