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240096000: Mitochondrial cytopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
359707011 Mitochondrial cytopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
629193019 Mitochondrial cytopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2871257019 Mitochondrial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

125 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial cytopathy (disorder) Is a Metabolic myopathy false Inferred relationship Some
Mitochondrial cytopathy (disorder) Finding site Skeletal muscle structure false Inferred relationship Some
Mitochondrial cytopathy (disorder) Is a Metabolic disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Myoclonic epilepsy with ragged red fibers Is a False Mitochondrial cytopathy (disorder) Inferred relationship Some
Kearns-Sayre syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Mitochondrial-lipid-glycogen storage myopathy Is a False Mitochondrial cytopathy (disorder) Inferred relationship Some
Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder) Is a False Mitochondrial cytopathy (disorder) Inferred relationship Some
Leber's optic atrophy Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
[X]Mitochondrial myopathy, not elsewhere classified Is a False Mitochondrial cytopathy (disorder) Inferred relationship Some
Congenital hyperammonemia, type I Is a False Mitochondrial cytopathy (disorder) Inferred relationship Some
Cytochrome-c oxidase deficiency Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Mitochondrial myopathy Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Histiocytoid mitochondrial cardiomyopathy due to cytochrome aa3 deficiency (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 1
Hypertrophic mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 1
Histiocytoid mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Hypertrophic mitochondrial cardiomyopathy associated with cataracts and lactic acidosis (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 3
Fatal infantile mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Maternally inherited mitochondrial cardiomyopathy and myopathy Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 3
Family history of mitochondrial disease Associated finding True Mitochondrial cytopathy (disorder) Inferred relationship Some 1
Childhood myocerebrohepatopathy spectrum (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Mitochondrial metabolism defect Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Deficiency of mitochondrial complex III Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Autosomal dominant optic atrophy plus syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 3
Maternally inherited mitochondrial dystonia (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 3
Zellweger-like syndrome without peroxisomal anomaly (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 3
MEHMO syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome Is a False Mitochondrial cytopathy (disorder) Inferred relationship Some
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Infantile onset spinocerebellar ataxia (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 5 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Demyelination of central nervous system co-occurrent and due to mitochondrial disease (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 1
Demyelination of central nervous system co-occurrent and due to mitochondrial disease (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 8 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Liver disease co-occurrent and due to mitochondrial disorder (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Liver disease co-occurrent and due to mitochondrial disorder (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 13 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 15 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 7 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 9 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 21 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a False Mitochondrial cytopathy (disorder) Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 2 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 4 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 4
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 14 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 17 (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Combined oxidative phosphorylation defect type 17 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Lipoic acid synthetase deficiency (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Lipoyl transferase 1 deficiency (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Autosomal recessive optic atrophy type 7 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation deficiency type 20 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 11 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Autosomal dominant progressive external ophthalmoplegia (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Autosomal recessive progressive external ophthalmoplegia Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Maternally inherited diabetes and deafness (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Dilated cardiomyopathy due to mitochondrial disease Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Glomerular disease due to mitochondrial cytopathy Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Chronic diarrhea with villous atrophy syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 4
Ocular anomalies, axonal neuropathy, developmental delay syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 4
Combined oxidative phosphorylation defect type 30 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 29 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 27 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 26 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 25 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 23 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 23 Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 4
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 5
Maternally inherited mitochondrial myopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Maternally inherited mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
Non-syndromic mitochondrial sensorineural deafness (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 28 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
QRSL1-related combined oxidative phosphorylation defect Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
QRSL1-related combined oxidative phosphorylation defect Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 3
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 24 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some
Chorea due to mitochondrial cytopathy Due to True Mitochondrial cytopathy (disorder) Inferred relationship Some 2
WARS2-related combined oxidative phosphorylation defect Is a True Mitochondrial cytopathy (disorder) Inferred relationship Some

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