722212004: Severe X-linked mitochondrial encephalomyopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Severe X-linked mitochondrial encephalomyopathy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Severe X-linked mitochondrial encephalomyopathy (disorder)

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

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

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Mitochondrial myopathy\Mitochondrial encephalomyopathy (disorder)\Severe X-linked mitochondrial encephalomyopathy (disorder)

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

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

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

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

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

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 (core metadata concept) SNOMED CT core

3331170017 Severe X-linked mitochondrial encephalomyopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3331171018 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331172013 Mitochondrial encephalomyopathy due to COXPD6 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3331174014 An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331169018	Severe X-linked mitochondrial encephalomyopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331170017	Severe X-linked mitochondrial encephalomyopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331171018	Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331172013	Mitochondrial encephalomyopathy due to COXPD6 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331174014	An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core