1187520001: Leigh syndrome due to cytochrome C oxidase deficiency (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency

\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Leigh syndrome due to cytochrome C oxidase deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\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\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\System disorders of the nervous system\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Disorder of body system\Disease 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\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency
\Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Leigh's disease\Leigh syndrome due to cytochrome C oxidase deficiency

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leigh syndrome due to cytochrome C oxidase deficiency	Is a	Leigh's disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Leigh syndrome due to cytochrome C oxidase deficiency	Is a	Central nervous system complication	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Leigh syndrome due to cytochrome C oxidase deficiency	Due to	Cytochrome-c oxidase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Leigh syndrome due to cytochrome C oxidase deficiency	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Leigh syndrome due to cytochrome C oxidase deficiency	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
4674069013	Leigh syndrome due to cytochrome C oxidase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674070014	Leigh syndrome due to cytochrome C oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674069013	Leigh syndrome due to cytochrome C oxidase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674070014	Leigh syndrome due to cytochrome C oxidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6388371000241113	encéphalomyopathie nécrosante subaigüe due à un déficit en cytochrome C oxydase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6388381000241110	syndrome de Leigh dû à un déficit en cytochrome C oxydase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6388371000241113	encéphalomyopathie nécrosante subaigüe due à un déficit en cytochrome C oxydase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6388381000241110	syndrome de Leigh dû à un déficit en cytochrome C oxydase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module