240096000: Mitochondrial cytopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Mitochondrial cytopathy

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

5036811000241119 cytopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2300601000195114 Mitochondriale Erkrankung de Synonym (core metadata concept) Active Entire term case sensitive (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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial cytopathy	Is a	Metabolic myopathy	false	Inferred relationship	Some
Mitochondrial cytopathy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Mitochondrial cytopathy	Is a	Metabolic disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.	Is a	True	Mitochondrial cytopathy	Inferred relationship	Some
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.	Is a	True	Mitochondrial cytopathy	Inferred relationship	Some
Dystonia due to mitochondrial disease (disorder)	Due to	True	Mitochondrial cytopathy	Inferred relationship	Some	2
Myoclonic disorder due to mitochondrial disorder (disorder)	Due to	True	Mitochondrial cytopathy	Inferred relationship	Some	3
A rare parkinsonian syndrome due to neurodegenerative disease characterised by resting tremor (which may initially be asymmetric), rigidity, and bradykinesia. Polyneuropathy with neurogenic electromyography findings is present in the majority of the patients and reported in young age (early twenties) whereas parkinsonian symptoms are visible later in life (between 40 and 70 years of age). Additional clinical symptoms may include anxiety and depression. Mild diffuse muscular atrophy can also be detected in some patients.	Is a	True	Mitochondrial cytopathy	Inferred relationship	Some
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.	Is a	True	Mitochondrial cytopathy	Inferred relationship	Some
A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfunction may not be evident in the patients.	Is a	True	Mitochondrial cytopathy	Inferred relationship	Some
ATPase family AAA domain containing 3A mitochondrial disease (disorder)	Is a	True	Mitochondrial cytopathy	Inferred relationship	Some
Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial disease	Is a	True	Mitochondrial cytopathy	Inferred relationship	Some
Coenzyme Q10 deficiency (disorder)	Is a	True	Mitochondrial cytopathy	Inferred relationship	Some

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This concept is not in any reference sets