31220004: Cobalamin D 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 D disease
\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 D disease
\Disorder of organic acid metabolism (disorder)\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Cobalamin D disease

\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Cobalamin D disease

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 D disease	Is a	Adenosylcobalamin and methylcobalamin synthesis defect	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cobalamin D disease	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cobalamin D disease	Finding site	Body system structure	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
52231016	Cobalamin D disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
762318018	Cobalamin D disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216348015	CblD methylmalonic acidaemia and homocystinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217848019	CblD methylmalonic acidemia and homocystinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1227450016	CblD - Cobalamin locus D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1227451017	M0E.321 Cobalamin locus D variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
52231016	Cobalamin D disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
762318018	Cobalamin D disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216348015	CblD methylmalonic acidaemia and homocystinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216348015	CblD methylmalonic acidaemia and homocystinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217848019	CblD methylmalonic acidemia and homocystinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217848019	CblD methylmalonic acidemia and homocystinuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1227450016	CblD - Cobalamin locus D	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1227450016	CblD - Cobalamin locus D	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1227451017	M0E.321 Cobalamin locus D variant	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4490821000241117	maladie de la Cobalamine D	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4490821000241117	maladie de la Cobalamine D	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module