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congenitaal defect in glycosylering type IIf (aandoening)
congenitaal defect in glycosylering type IIf
SLC35A1-CDG
CDG-IIf
CDG-syndroom type IIf
CMP-sialinezuurtransporterdefici├źntie
CDG2F
SLC35A1 congenital disorder of glycosylation
Solute carrier family 35 member A1 congenital disorder of glycosylation
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
SLC35A1 (solute carrier family 35 member A1) congenital disorder of glycosylation
Congenital disorder of glycosylation type IIf
Congenital disorder of glycosylation type 2f
An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
Id723624008
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE77.8
TermOverige gespecificeerde stoornissen van glycoproteïnemetabolisme
SNOMED CT to Orphanet simple map238459
SNOMED CT to ICD-10 extended map
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