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xylosyltransferase-1 congenitaal defect in glycosylering (aandoening)
xylosyltransferase-1 congenitaal defect in glycosylering
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
XYLT1-CDG
Xylosyltransferase 1 congenital disorder of glycosylation
A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs.
Id773418007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified