718214007: Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Digestive system finding\Disorder of digestive system\Chronic digestive system disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\General finding of soft tissue\Disorder of soft tissue\...

\Disorder of soft tissue of head\Disorder of extraocular muscle\...

\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Chronic brain syndrome\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Leukoencephalopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Finding of head region\Leukoencephalopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of head\Encephalopathy\Chronic brain syndrome\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of head\Encephalopathy\Leukoencephalopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Muscle finding\Myopathy\Disorder of skeletal muscle\...

\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Chronic digestive system disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Encephalopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Metabolic disease\Chronic metabolic disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Chronic disease\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Chronic disease\Chronic metabolic disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Chronic disease\Chronic digestive system disorder\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\Myopathy of extraocular muscles\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Progressive external ophthalmoplegia\Mitochondrial neurogastrointestinal encephalomyopathy syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Mitochondrial neurogastrointestinal encephalomyopathy syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3310433019 Mitochondrial neurogastrointestinal encephalomyopathy syndrome en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3310432012	Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3310433019	Mitochondrial neurogastrointestinal encephalomyopathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core