| serinebiosynthesedeficiëntiesyndroom van infantiele en/of juveniele type (aandoening) | | serinebiosynthesedeficiëntiesyndroom van infantiele en/of juveniele type | | infantiele en/of juveniele vorm van serinesynthesedeficiëntiesyndroom
| | Serine biosynthesis pathway deficiency, infantile/juvenile form | | A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency and phosphoserine aminotransferase deficiency. The disease has a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability. |
| | Id | 1284855000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 583595 |
| SNOMED CT to ICD-10 extended map | | Target | E72.8 | | Rule | TRUE | | Advice | ALWAYS E72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
