autosomaal dominante hereditaire aandoening
hereditaire aandoening van visueel systeem
hereditaire ontwikkelingsstoornis
microftalmie
||||
syndromale microftalmie type 5 (aandoening)
syndromale microftalmie type 5
syndromale microftalmie door OTX2-mutatie
Syndromic microphthalmia type 5
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
Syndromic microphthalmia due to OTX2 mutation
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
Id718761007
StatusPrimitive
Associated morphologyafwijkend klein
Finding sitegehele bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ11.2
TermMicroftalmie
SNOMED CT to ICD-10 extended map
TargetQ11.2
RuleTRUE
AdviceALWAYS Q11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified