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447292006: Mitochondrial encephalomyopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2011. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2880725016 Mitochondrial encephalomyopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2883571014 Mitochondrial encephalomyopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2883572019 Mitochondrial myoencephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5935421000241110 encéphalomyopathie mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

12 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial encephalomyopathy (disorder) Is a Disorder of soft tissue of body cavity false Inferred relationship Some
Mitochondrial encephalomyopathy (disorder) Is a Disorder of brain (disorder) true Inferred relationship Some
Mitochondrial encephalomyopathy (disorder) Is a Mitochondrial myopathy true Inferred relationship Some
Mitochondrial encephalomyopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 2
Mitochondrial encephalomyopathy (disorder) Finding site Brain structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Some
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Some
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Some
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Some
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy. Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Some
Leigh-Syndrom mit nephrotischem Syndrom Is a False Mitochondrial encephalomyopathy (disorder) Inferred relationship Some
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Some

This concept is not in any reference sets

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