| 3-methylglutaconacidurie type VII (aandoening) | | 3-methylglutaconacidurie type VII | | 3-methylglutaconic aciduria type 7 | | CLBP (ClpB homolog, mitochondrial AAA ATPase chaperonin) deficiency
3-methylglutaconic aciduria type VII
MGA7 - 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria, cataract, neurologic involvement, neutropenia syndrome
| | A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia. |
| | Id | 764860006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 445038 |
| SNOMED CT to ICD-10 extended map | | Target | E71.1 | | Rule | TRUE | | Advice | ALWAYS E71.1 | 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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