| congenitaal defect in glycosylering type Ii (aandoening) | | congenitaal defect in glycosylering type Ii | | CDG-syndroom type 1i
CDG-Ii
| | Congenital disorder of glycosylation type 1i | | Mannosyltransferase 2 deficiency
| | A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. |
| | Id | 897592003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 79326 |
| 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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