240096000: mitochondriale cytopathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\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:

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 (disorder)	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
congenitale hyperammoniëmie type I (aandoening)	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
syndroom van proximale tubulopathie, diabetes mellitus en cerebellaire ataxie (aandoening)	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	False	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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Id	Description	Lang	Type	Status	Case?	Module
359706019	Mitochondrial myopathy	en	Synonym (core metadata concept)	Inactive	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	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
7061021000146119	mitochondriale cytopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7061031000146117	mitochondriale cytopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7442141000146116	mitochondriale aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7733791000146114	mitochondriële ziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10790181000146117	mitochondriale ziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10790171000146119	Aandoeningen met als kenmerken stoornissen in de celstofwisseling.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)