722212004: Severe X-linked mitochondrial encephalomyopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Central nervous system finding\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy

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

\Finding of brain\Disorder of brain\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy

\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe X-linked mitochondrial encephalomyopathy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of head\Disorder of brain\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Severe X-linked mitochondrial encephalomyopathy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Metabolic disease\Mitochondrial cytopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Severe X-linked mitochondrial encephalomyopathy
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Severe X-linked mitochondrial encephalomyopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy\Severe X-linked mitochondrial encephalomyopathy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3331169018 Severe X-linked mitochondrial encephalomyopathy (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3331170017 Severe X-linked mitochondrial encephalomyopathy en Synonym Active Only initial character case insensitive SNOMED CT core module
3331171018 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 en Synonym Active Entire term case insensitive SNOMED CT core module
3331172013 Mitochondrial encephalomyopathy due to COXPD6 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe X-linked mitochondrial encephalomyopathy	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy	Is a	Mitochondrial encephalomyopathy	true	Inferred relationship	Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Severe X-linked mitochondrial encephalomyopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Severe X-linked mitochondrial encephalomyopathy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy	Is a	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Existential restriction modifier
Severe X-linked mitochondrial encephalomyopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Severe X-linked mitochondrial encephalomyopathy	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	3
Severe X-linked mitochondrial encephalomyopathy	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	3
Severe X-linked mitochondrial encephalomyopathy	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3331169018	Severe X-linked mitochondrial encephalomyopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3331170017	Severe X-linked mitochondrial encephalomyopathy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3331171018	Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3331172013	Mitochondrial encephalomyopathy due to COXPD6 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module