3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) | | 3-phosphoglycerate dehydrogenase deficiency juvenile form | | An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioral disorders. | | juveniele deficiëntie van 3-fosfoglyceraatdehydrogenase | | juveniele 3-fosfoglyceraatdehydrogenasedeficiëntie
|
| Id | 733636005 | Status | Primitive |
ICD-10 complex map reference set | Target | E72.8 | Rule | TRUE | Advice | ALWAYS E72.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|