Congenital neurological disorder
Disorder of mitochondrial respiratory chain complexes
Hereditary degenerative disease of central nervous system
Hereditary disorder of musculoskeletal system
Hereditary disorder of musculoskeletal system
Hereditary myopathy
Inherited metabolic disorder of nervous system
Mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy
X-linked recessive hereditary disease
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Severe X-linked mitochondrial encephalomyopathy (disorder)
Severe X-linked mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
Mitochondrial encephalomyopathy due to COXPD6 deficiency
An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.
ernstige X-gebonden mitochondriale encefalomyopathie
mitochondriale encefalomyopathie door gecombineerde oxidatieve fosforylatiedeficiëntie type 6
mitochondriale encefalomyopathie door COXPD6-deficiëntie
Id722212004
StatusPrimitive
Finding siteSkeletal muscle structure
Finding siteSkeletal muscle structure
OccurrenceCongenital
Associated morphologyDegenerative abnormality
Finding siteBrain structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified