Mitochondrial cytopathy

Code	`240096000`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

1363370009ATAD3A mitochondrial disease disorder

1222649004Auditory neuropathy, optic atrophy syndrome disorder

715374003Autosomal dominant optic atrophy plus syndrome disorder

827115000Autosomal dominant progressive external ophthalmoplegia disorder

725394006Autosomal recessive ataxia due to ubiquinone deficiency disorder

783065004Autosomal recessive optic atrophy type 7 disorder

827117008Autosomal recessive progressive external ophthalmoplegia disorder

784347002Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome disorder

1220595008Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome disorder

702366001Childhood myocerebrohepatopathy spectrum disorder

734019006Chronic diarrhoea with villous atrophy syndrome disorder

724575009Coenzyme Q10 deficiency disorder

783558004Combined oxidative phosphorylation defect type 11 disorder

763110007Combined oxidative phosphorylation defect type 13 disorder

778065005Combined oxidative phosphorylation defect type 14 disorder

763203009Combined oxidative phosphorylation defect type 15 disorder

775908005Combined oxidative phosphorylation defect type 17 disorder

764943000Combined oxidative phosphorylation defect type 2 disorder

763211004Combined oxidative phosphorylation defect type 21 disorder

1173036000Combined oxidative phosphorylation defect type 23 disorder

1222680009Combined oxidative phosphorylation defect type 24 disorder

1173035001Combined oxidative phosphorylation defect type 25 disorder

1173034002Combined oxidative phosphorylation defect type 26 disorder

1172844009Combined oxidative phosphorylation defect type 27 disorder

1187640000Combined oxidative phosphorylation defect type 28 disorder

1172843003Combined oxidative phosphorylation defect type 29 disorder

1172841001Combined oxidative phosphorylation defect type 30 disorder

766876004Combined oxidative phosphorylation defect type 4 disorder

724279004Combined oxidative phosphorylation defect type 5 disorder

763204003Combined oxidative phosphorylation defect type 7 disorder

733600007Combined oxidative phosphorylation defect type 8 disorder

763209008Combined oxidative phosphorylation defect type 9 disorder

783178001Combined oxidative phosphorylation deficiency type 20 disorder

67434000Cytochrome-c oxidase deficiency disorder

709414007Deficiency of mitochondrial complex III disorder

724784006Demyelination of central nervous system co-occurrent and due to mitochondrial disease disorder

771469002Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome disorder

1236807002Encephalopathy due to mitochondrial and peroxisomal fission defect disorder

726702005Epileptic encephalopathy with global cerebral demyelination disorder

720951008Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 disorder

1363284002Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation disorder

93466004Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance disorder

1237349008Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome disorder

776416004Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome disorder

771513008Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency disorder

724227000Infantile onset spinocerebellar ataxia disorder

25792000Kearns-Sayre syndrome disorder

58610003Leber's optic atrophy disorder

735421004Leucoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome disorder

763366000Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome disorder

782744007Lipoic acid synthetase deficiency disorder

782745008Lipoyl transferase 1 deficiency disorder

735732003Liver disease co-occurrent and due to mitochondrial disorder disorder

722037004MEHMO syndrome disorder

1236805005MEPAN syndrome disorder

724173009Maternally inherited cardiomyopathy and hearing loss syndrome disorder

237619009Maternally inherited diabetes and deafness disorder

717054001Maternally inherited mitochondrial dystonia disorder

771478008Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency disorder

133791000119107Mitochondrial metabolism defect disorder

16851005Mitochondrial myopathy disorder

1363509005Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease disorder

1220598005Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy disorder

1187512003Non-syndromic mitochondrial sensorineural deafness disorder

1172586007Ocular anomalies, axonal neuropathy, developmental delay syndrome disorder

1222655009Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome disorder

1356741005Parkinsonism with polyneuropathy disorder

1197430005QRSL1-related combined oxidative phosphorylation defect disorder

717053007Renal tubulopathy with encephalopathy and liver failure syndrome disorder

773423007Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency disorder

1260133007Syndromic sensorineural deafness due to combined oxidative phosphorylation defect disorder

1260128008WARS2-related combined oxidative phosphorylation defect disorder

718880003Zellweger-like syndrome without peroxisomal anomaly disorder

Synonyms

Parents (1)

Children (73)