congenitale atrofie van nervus opticus
X-gebonden opticusatrofie
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vroeg optredende X-gebonden opticusatrofie (aandoening)
vroeg optredende X-gebonden opticusatrofie
opticusatrofie type 2
OPA2
vroeg optredende X-gebonden atrofie van nervus opticus
vroeg optredende opticusatrofie van niet-Leber-type
Early-onset X-linked optic atrophy
Non-Leber type optic atrophy with early-onset
Optic atrophy type 2
A rare form of hereditary optic atrophy seen in only 4 families to date. With onset in early childhood the disease has characteristics of progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.
Id721200000
StatusPrimitive
Associated morphologyprimaire atrofie
Finding sitestructuur van nervus opticus
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH47.2
TermOpticusatrofie
SNOMED CT to Orphanet simple map98890
SNOMED CT to ICD-10 extended map
TargetH47.2
RuleTRUE
AdviceALWAYS H47.2
CorrelationSNOMED CT source code to target map code correlation not specified