| methenyltetrahydrofolaatsynthetase-gerelateerd syndroom van ontwikkelingsachterstand, microcefalie, kleine gestalte en epilepsie (aandoening) | | MTHFS-gerelateerd syndroom van ontwikkelingsachterstand, microcefalie, kleine gestalte en epilepsie | | methenyltetrahydrofolaatsynthetase-gerelateerd syndroom van ontwikkelingsachterstand, microcefalie, kleine gestalte en epilepsie
| | MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome | | MTHFS (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome
Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome
| | A rare genetic neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum. |
| | Id | 1300128003 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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