74653006: Cobalamin C disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\...

\Disorder of organic acid metabolism (disorder)\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Cobalamin C disease (disorder)
\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Cobalamin C disease (disorder)
\Disorder of organic acid metabolism (disorder)\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Cobalamin C disease (disorder)

\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Cobalamin C disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cobalamin C disease (disorder)	Is a	Adenosylcobalamin and methylcobalamin synthesis defect	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cobalamin C disease (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cobalamin C disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)

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
123975018	Cobalamin C disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
815176014	Cobalamin C disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216917016	CblC methylmalonic acidaemia and homocystinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1218404017	CblC methylmalonic acidemia and homocystinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233773015	Cobalamin locus C variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233774014	CblC - Cobalamin locus C	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
123975018	Cobalamin C disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
815176014	Cobalamin C disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216917016	CblC methylmalonic acidaemia and homocystinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216917016	CblC methylmalonic acidaemia and homocystinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1218404017	CblC methylmalonic acidemia and homocystinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218404017	CblC methylmalonic acidemia and homocystinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233773015	Cobalamin locus C variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233774014	CblC - Cobalamin locus C	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233774014	CblC - Cobalamin locus C	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634071000241110	maladie de la Cobalamine C	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4634071000241110	maladie de la Cobalamine C	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module