Mitochondrial myopathy, not elsewhere classified

Preferred Label : Mitochondrial myopathy, not elsewhere classified;

ICD-10 exclusion note : Leber's disease (H47.21); Kearns-Sayre syndrome (H49.81); Leigh's encephalopathy (G31.82); Reye's syndrome (G93.7); mitochondrial metabolism disorders (E88.4.-);

Diag associé à un acte (%) : 81.7;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

G713;

UMLS CUI

C0869052;

Currated CISMeF NLP mapping
- Mitochondrial myopathy [ORDO Disease]
- Mitochondrial myopathy [MedDRA Preferred Term]
- mitochondrial myopathy [SNOMED Notion]
DO Cross reference
- mitochondrial complex II deficiency [DO Concept]
- mitochondrial complex V (ATP synthase) deficiency nuclear type 2 [DO Concept]
Manual NTBT mappings (CISMeF)
- Adenosine monophosphate deaminase deficiency [ORDO Disease]
- Isolated complex I deficiency [ORDO Disease]
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]
- Mitochondrial DNA depletion syndrome [ORDO Disease]
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
- Mitochondrial myopathy-lactic acidosis-deafness syndrome [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome [ORDO Disease]
Orphanet concepts
- Adenosine monophosphate deaminase deficiency [ORDO Disease]
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy [ORDO Disease]
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency [ORDO Disease]
- Autosomal dominant mitochondrial myopathy with exercise intolerance [ORDO Disease]
- Cardiomyopathy-hypotonia-lactic acidosis syndrome [ORDO Disease]
- Combined oxidative phosphorylation defect type 13 [ORDO Disease]
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome [ORDO Disease]
- DNA2-related mitochondrial DNA deletion syndrome [ORDO Disease]
- FASTKD2-related infantile mitochondrial encephalomyopathy [ORDO Disease]
- Fatal infantile cytochrome C oxidase deficiency [ORDO Disease]
- Hereditary myopathy with lactic acidosis due to ISCU deficiency [ORDO Disease]
- Isolated complex I deficiency [ORDO Disease]
- Isolated complex III deficiency [ORDO Disease]
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]
- Lethal infantile mitochondrial myopathy [ORDO Disease]
- MELAS [ORDO Disease]
- MERRF [ORDO Disease]
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria [ORDO Disease]
- Mitochondrial DNA depletion syndrome, myopathic form [ORDO Disease]
- Mitochondrial DNA-related mitochondrial myopathy [ORDO Disease]
- Mitochondrial myopathy [ORDO Disease]
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency [ORDO Disease]
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome [ORDO Disease]
- Mitochondrial myopathy-lactic acidosis-deafness syndrome [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- Myopathy and diabetes mellitus [ORDO Disease]
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome [ORDO Disease]
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome [ORDO Disease]
- Proximal myopathy with extrapyramidal signs [ORDO Disease]
- Pure mitochondrial myopathy [ORDO Disease]
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome [ORDO Disease]
- TMEM70-related mitochondrial encephalo-cardio-myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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