| encefalomyopathische vorm van RRM2B-gerelateerd syndroom van depletie van mitochondriaal deoxyribonucleïnezuur met niertubulopathie (aandoening) | | encefalomyopathische vorm van RRM2B-gerelateerd syndroom van depletie van mitochondriaal DNA met niertubulopathie | | encefalomyopathische vorm van RRM2B-gerelateerd syndroom van depletie van mitochondriaal deoxyribonucleïnezuur met niertubulopathie
'ribonucleotide reductase regulatory TP53 inducible subunit M2B'-gerelateerd mitochondrieel DNA-depletiesyndroom van encefalomyopathische vorm met renale tubulopathie
| | RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | | Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy
Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
| | A severe condition with onset in infancy of encephalomyopathy and in many cases renal tubulopathy. Manifestations include hypotonia, failure to thrive, microcephaly, and difficulty controlling head movement, delayed motor skills, serious breathing difficulties and can result in life-threatening respiratory failure. Most affected infants have lactic acidosis, which may also be life-threatening. Also associated are gastrointestinal dysmotility, seizures and sensorineural hearing loss. The disease is caused by mutations in the RRM2B gene which provides instructions for making one piece of the protein ribonucleotide reductase (RNR). RRM2B gene mutations reduce the activity or amount of RNR, which likely impairs production of mitochondrial DNA nucleotides. Inherited in an autosomal recessive pattern. |
| | Id | 765100000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.3 | | Term | Mitochondriën-myopathie, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 255235 |
| SNOMED CT to ICD-10 extended map | | Target | G71.3 | | Rule | TRUE | | Advice | ALWAYS G71.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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