| multipele-mitochondriale-disfuncties-syndroom type 3 (aandoening) | | multipele-mitochondriale-disfuncties-syndroom type 3 | | IBA57-deficiëntie
MMDS3
| | Multiple mitochondrial dysfunctions syndrome type 3 | | MMDS3 - multiple mitochondrial dysfunctions syndrome type 3
IBA57 (iron-sulfur cluster assembly factor IBA57) deficiency
| | A rare neurometabolic disease due to a lipoic acid biosynthesis defect with a highly variable phenotype. Typical characteristics are early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occipital lobes. |
| | Id | 1208620009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 363424 |
| 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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