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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
359706019 Mitochondrial myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
359707011 Mitochondrial cytopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
3389091001000119 Mitochondriopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5036811000241119 cytopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5036811000241119 cytopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389091001000119 Mitochondriopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

125 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial cytopathy (disorder) Is a Metabolic myopathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial cytopathy (disorder) Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial cytopathy (disorder) Is a Metabolic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Myoclonic epilepsy with ragged red fibers (disorder) Is a False Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Kearns-Sayre syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial-lipid-glycogen storage myopathy Is a False Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile myopathy, encephalopathy, lactic acidosis, stroke (disorder) Is a False Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leber's optic atrophy Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
[X]Mitochondrial myopathy, not elsewhere classified Is a False Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperammonemia, type I Is a False Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cytochrome-c oxidase deficiency Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Histiocytoid mitochondrial cardiomyopathy due to cytochrome aa3 deficiency (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mitochondrial cardiomyopathy Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypertrophic mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Histiocytoid mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypertrophic mitochondrial cardiomyopathy associated with cataracts and lactic acidosis (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Fatal infantile mitochondrial cardiomyopathy Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Maternally inherited mitochondrial cardiomyopathy and myopathy Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Family history of mitochondrial disease Associated finding True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Childhood myocerebrohepatopathy spectrum (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial metabolism defect Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of mitochondrial complex III Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant optic atrophy plus syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Maternally inherited mitochondrial dystonia (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Zellweger-like syndrome without peroxisomal anomaly (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
MEHMO syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse Is a False Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile onset spinocerebellar ataxia (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 5 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Demyelination of central nervous system co-occurrent and due to mitochondrial disease (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Demyelination of central nervous system co-occurrent and due to mitochondrial disease (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Epileptic encephalopathy with global cerebral demyelination (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 8 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Liver disease co-occurrent and due to mitochondrial disorder (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Liver disease co-occurrent and due to mitochondrial disorder (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterised by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive. Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 15 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 7 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 21 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a False Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 4 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 14 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 17 (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Combined oxidative phosphorylation defect type 17 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
MT-ATP6-related mitochondrial spastic paraplegia Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lipoic acid synthetase deficiency Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lipoyl transferase 1 deficiency (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive optic atrophy type 7 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation deficiency type 20 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss and renal disease. Additional variably observed clinical features include intellectual disability, seizures, and cardiomyopathy. Caused by homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25. Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant progressive external ophthalmoplegia (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive progressive external ophthalmoplegia Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited diabetes and deafness (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dilated cardiomyopathy due to mitochondrial disease Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Disorder of glomerulus due to mitochondrial cytopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Chronic diarrhea with villous atrophy syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Combined oxidative phosphorylation defect type 30 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 29 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 27 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes. Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterised by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 23 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 23 Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 5
Maternally inherited mitochondrial myopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Maternally inherited mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-syndromic mitochondrial sensorineural deafness (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 28 Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
QRSL1-related combined oxidative phosphorylation defect Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
QRSL1-related combined oxidative phosphorylation defect Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 24 (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chorea due to mitochondrial cytopathy Due to True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
WARS2-related combined oxidative phosphorylation defect Is a True Mitochondrial cytopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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