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240096000: Mitochondrial cytopathy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
359706019 Mitochondrial myopathy en Synonym Inactive Only initial character case insensitive SNOMED CT core module
359707011 Mitochondrial cytopathy en Synonym Active Entire term case insensitive SNOMED CT core module
629193019 Mitochondrial cytopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2871257019 Mitochondrial disease en Synonym Active Entire term case insensitive SNOMED CT core module

123 descendants. Search Descendants:

Expanded Value Set

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

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