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ernstige X-gebonden mitochondriale encefalomyopathie (aandoening)
ernstige X-gebonden mitochondriale encefalomyopathie
mitochondriale encefalomyopathie door gecombineerde oxidatieve fosforylatiedeficiëntie type 6
mitochondriale encefalomyopathie door COXPD6-deficiëntie
Severe X-linked mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
Mitochondrial encephalomyopathy due to COXPD6 deficiency
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
Id722212004
StatusPrimitive
Occurrencecongenitaal
Associated morphologydegeneratieve afwijking
Finding sitestructuur van encephalon
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.3
TermMitochondriën-myopathie, niet elders geclassificeerd
SNOMED CT to Orphanet simple map238329
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified