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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
X-linked cone dysfunction syndrome with myopia is characterized by 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.
Id718718009
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map90001
SNOMED CT to ICD-10 extended map
TargetH53.8
RuleTRUE
AdviceALWAYS H53.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified