| congenitaal defect in glycosylering type In (aandoening) | | congenitaal defect in glycosylering type In | | CDG-syndroom type In
| | Congenital disorder of glycosylation type 1n | | RFT1-CDG (congenital disorder of glycosylation)
Congenital disorder of glycosylation type In
Man5GlcNAc2-dolichylpyrophosphate flippase deficiency
RFT1-congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type In
| | A form of congenital disorders of N-linked glycosylation with characteristics of poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). |
| | Id | 733084000 | | Status | Primitive |
| 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 |
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| SNOMED CT to Orphanet simple map | 244310 |
| 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 |
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