| congenitaal defect in glycosylering gerelateerd aan carbamoylfosfaatsynthetase 2, aspartaattranscarbamoylase en dihydro-orotase (aandoening) | | congenitaal defect in glycosylering gerelateerd aan carbamoylfosfaatsynthetase 2, aspartaattranscarbamoylase en dihydro-orotase | | congenitaal defect in glycosylering type Iz
congenitaal defect in glycosylering type 1z
CDG-Iz
congenitaal defect in glycosylering gerelateerd aan carbamoylfosfaatsynthetase 2, aspartaattranscarbamylase en dihydro-orotase
CAD-CDG
CDG-syndroom type Iz
| | CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | | Congenital disorder of glycosylation type 1z
Carbohydrate deficient glycoprotein syndrome type Iz
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
| | A rare congenital disorder of glycosylation caused by mutations in the CAD gene with characteristics of epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. |
| | Id | 1237417007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 448010 |
| 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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