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718214007: mitochondriale neurogastro-intestinale encefalomyopathie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3310432012 Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310433019 Mitochondrial neurogastrointestinal encephalomyopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6955411000146118 mitochondriale neurogastro-intestinale encefalomyopathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6955421000146111 mitochondriële neurogastro-intestinale encefalomyopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6955431000146113 mitochondriale neurogastro-intestinale encefalomyopathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6955441000146117 MNGIE nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6955451000146119 mitochondriaal DNA-depletiesyndroom 4B nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3311535016 Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibers with mitochondrial proliferation (ragged-red fibers) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311536015 Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibres with mitochondrial proliferation (ragged-red fibres) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Leukoencephalopathy true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Progressive external ophthalmoplegia true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Disorder of gastrointestinal tract (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Mitochondrial encephalomyopathy (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Cerebral white matter structure true Inferred relationship Some 3
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Gastrointestinal tract structure true Inferred relationship Some 1
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Skeletal muscle structure false Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Eye region structure (body structure) false Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 5
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Myopathy of extraocular muscles true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Finding site Structure of extraocular muscle true Inferred relationship Some 2
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Chronic metabolic disorder true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Chronic digestive system disorder true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Chronic brain syndrome true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Interprets Movement true Inferred relationship Some 6
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Interprets Movement observable true Inferred relationship Some 4
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Has interpretation Absent true Inferred relationship Some 4
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Hereditary myopathy (disorder) true Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a Hereditary metabolic disease false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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