Carbohydrate-deficient glycoprotein syndrome	Disorder of pyrimidine metabolism
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Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)
	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.
	congenitaal defect in glycosylering type IIf
	CMP-sialinezuurtransporterdeficiëntie CDG2F SLC35A1-CDG CDG-IIf CDG-syndroom type IIf

Id	723624008
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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