| 3-methylglutaconacidurie type VII (aandoening) | | 3-methylglutaconacidurie type VII | | 3-methylglutaconic aciduria type 7 | | MGA7 - 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria, cataract, neurologic involvement, neutropenia syndrome
CLBP (ClpB homolog, mitochondrial AAA ATPase chaperonin) deficiency
3-methylglutaconic aciduria type VII
| | A rare disorder with characteristics of neurological problems and neutropenia. Onset of symptoms is in early childhood and severity varies widely among affected individuals. In the most severely affected individuals, features are apparent in infancy and sometimes at birth. Associated with congenital cataracts or cataracts in infancy. The disease is caused by mutations in the CLPB gene which is likely to reduce or eliminate the amount of functional CLPB protein. The severity of the disease may be related to the amount of functional protein that remains. Inherited in an autosomal recessive pattern. |
| | Id | 764860006 | | Status | Primitive |
| referentieset met complexe 'mapping' naar ICD-10 | | Target | E71.1 | | Rule | TRUE | | Advice | ALWAYS E71.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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