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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
2880725016 Mitochondrial encephalomyopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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 Existential restriction modifier (core metadata concept)
Mitochondrial encephalomyopathy (disorder) Is a Disorder of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial encephalomyopathy (disorder) Is a Mitochondrial myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial encephalomyopathy (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mitochondrial encephalomyopathy (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked mitochondrial encephalomyopathy (disorder) Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterised by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalised 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 Existential restriction modifier (core metadata concept)
Myoclonic epilepsy with ragged red fibers (disorder) Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leigh-Syndrom mit nephrotischem Syndrom Is a False Mitochondrial encephalomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Mitochondrial encephalomyopathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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