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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
2871257019 Mitochondrial disease en Synonym (core metadata concept) Active Entire term 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 Entire term case insensitive (core metadata concept) SNOMED CT core

119 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial cytopathy est un(e) (attribut) trouble métabolique true Inferred relationship Some
Mitochondrial cytopathy localisation d'une constatation (attribut) structure de muscle squelettique false Inferred relationship Some
Mitochondrial cytopathy est un(e) (attribut) myopathie d'origine métabolique (trouble) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 2
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 4
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Due to True Mitochondrial cytopathy Inferred relationship Some 2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 14 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 17 (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 2
Combined oxidative phosphorylation defect type 17 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Lipoic acid synthetase deficiency (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Lipoyl transferase 1 deficiency (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Autosomal recessive optic atrophy type 7 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation deficiency type 20 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 11 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Autosomal dominant progressive external ophthalmoplegia (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Autosomal recessive progressive external ophthalmoplegia est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Diabetes-deafness syndrome maternally transmitted est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Dilated cardiomyopathy due to mitochondrial disease Due to True Mitochondrial cytopathy Inferred relationship Some 2
Glomerular disease due to mitochondrial cytopathy Due to True Mitochondrial cytopathy Inferred relationship Some 2
Chronic diarrhea with villous atrophy syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Due to True Mitochondrial cytopathy Inferred relationship Some 4
Ocular anomalies, axonal neuropathy, developmental delay syndrome est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Due to True Mitochondrial cytopathy Inferred relationship Some 4
Combined oxidative phosphorylation defect type 30 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 29 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 27 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 26 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 25 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 23 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 23 Due to True Mitochondrial cytopathy Inferred relationship Some 4
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 5
Maternally inherited mitochondrial myopathy (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 2
Maternally inherited mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 2
Non-syndromic mitochondrial sensorineural deafness (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 28 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
QRSL1-related combined oxidative phosphorylation defect est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
QRSL1-related combined oxidative phosphorylation defect Due to True Mitochondrial cytopathy Inferred relationship Some 3
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 24 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
syndrome de Kearns-Sayre (trouble) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Mitochondrial-lipid-glycogen storage myopathy est un(e) (attribut) False Mitochondrial cytopathy Inferred relationship Some
encéphalomyopathie mitochondriale, acidose lactique, pseudo-épisodes vasculaires cérébraux est un(e) (attribut) False Mitochondrial cytopathy Inferred relationship Some
Leber's optic atrophy (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Congenital hyperammonemia, type I est un(e) (attribut) False Mitochondrial cytopathy Inferred relationship Some
Cytochrome-c oxidase deficiency est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Mitochondrial myopathy est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
[X]Mitochondrial myopathy, not elsewhere classified est un(e) (attribut) False Mitochondrial cytopathy Inferred relationship Some
Myoclonic epilepsy with ragged red fibers est un(e) (attribut) False Mitochondrial cytopathy Inferred relationship Some
Histiocytoid mitochondrial cardiomyopathy due to cytochrome aa3 deficiency (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 2
Mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 1
Hypertrophic mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 1
Histiocytoid mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 2
Hypertrophic mitochondrial cardiomyopathy associated with cataracts and lactic acidosis (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 3
Fatal infantile mitochondrial cardiomyopathy (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 2
Maternally inherited mitochondrial cardiomyopathy and myopathy Due to True Mitochondrial cytopathy Inferred relationship Some 3
Family history of mitochondrial disease constatation associée (attribut) True Mitochondrial cytopathy Inferred relationship Some 1
Childhood myocerebrohepatopathy spectrum (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Mitochondrial metabolism defect est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Deficiency of mitochondrial complex III est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Autosomal dominant optic atrophy plus syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 3
Maternally inherited mitochondrial dystonia (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 3
Zellweger-like syndrome without peroxisomal anomaly (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 3
MEHMO syndrome est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder) est un(e) (attribut) False Mitochondrial cytopathy Inferred relationship Some
Maternally inherited cardiomyopathy and hearing loss syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Infantile onset spinocerebellar ataxia (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 5 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Demyelination of central nervous system co-occurrent and due to mitochondrial disease (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 1
Demyelination of central nervous system co-occurrent and due to mitochondrial disease (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
encéphalopathie épileptique avec démyélinisation cérébrale généralisée est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 8 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Liver disease co-occurrent and due to mitochondrial disorder (disorder) Due to True Mitochondrial cytopathy Inferred relationship Some 2
Liver disease co-occurrent and due to mitochondrial disorder (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 13 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 15 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 7 (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
déficit combiné de la phosphorylation oxydative type 9 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 21 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome est un(e) (attribut) False Mitochondrial cytopathy Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 2 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some
Combined oxidative phosphorylation defect type 4 est un(e) (attribut) True Mitochondrial cytopathy Inferred relationship Some

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