| multipele-mitochondriale-disfuncties-syndroom type 5 (aandoening) | | multipele-mitochondriale-disfuncties-syndroom type 5 | | MMDS5
ISCA1-deficiëntie
| | Multiple mitochondrial dysfunctions syndrome type 5 | | ISCA1 deficiency
ISCA1 (iron-sulfur cluster assembly 1) deficiency
MMDS5 - multiple mitochondrial dysfunctions syndrome type 5
| | A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. |
| | Id | 1279890001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen |
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| SNOMED CT to Orphanet simple map | 569274 |
| 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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