congenitaal defect in glycosylering	stoornis van metabolisme van pyrimidine
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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-sialinezuurtransporterdeficiëntie 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.

Id	723624008
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E77.8
Term	Overige gespecificeerde stoornissen van glycoproteïnemetabolisme

SNOMED CT to Orphanet simple map

238459

SNOMED CT to ICD-10 extended map

Target	E77.8
Rule	TRUE
Advice	ALWAYS E77.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified