| encefalomyopathische vorm van syndroom van depletie van mitochondriaal deoxyribonucleïnezuur met variabele craniofaciale afwijkingen (aandoening) | | encefalomyopathische vorm van syndroom van depletie van mitochondriaal DNA met variabele craniofaciale afwijkingen | | encefalomyopathische vorm van mtDNA-depletiesyndroom met variabele craniofaciale anomalieën
encefalomyopathische vorm van syndroom van depletie van mitochondriaal deoxyribonucleïnezuur met variabele craniofaciale afwijkingen
| | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | | mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
| | A rare mitochondrial DNA depletion syndrome with characteristics of congenital or early-onset lactic acidosis, hypotonia and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities. |
| | Id | 1208937004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 369897 |
| 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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