X-gebonden kegeldisfunctiesyndroom met myopie (aandoening)
X-gebonden kegeldisfunctiesyndroom met myopie
oogziekte van Bornholm
X-gebonden kegeldisfunctiesyndroom met bijziendheid
X-linked cone dysfunction syndrome with myopia
Bornholm eye disease
Syndrome with characteristics of moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde visuele stoornissen
SNOMED CT to Orphanet simple map90001
SNOMED CT to ICD-10 extended map
AdviceALWAYS H53.8
CorrelationSNOMED CT source code to target map code correlation not specified