| 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 rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy. |
| | 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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