| syndroom van spastische tetraplegie, dun corpus callosum en progressieve postnatale microcefalie (aandoening) | | syndroom van spastische tetraplegie, dun corpus callosum en progressieve postnatale microcefalie | | syndroom van spastische quadriplegie, dun corpus callosum en progressieve postnatale microcefalie
ASCT1-deficiëntie
| | Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome | | ASCT1 deficiency
Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
| | A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy. |
| | Id | 1237418002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 447997 |
| SNOMED CT to ICD-10 extended map | | Target | Q02 | | Rule | TRUE | | Advice | ALWAYS Q02 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
