31220004: Cobalamin D disease (disorder)

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

\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia\Adenosylcobalamin and methylcobalamin synthesis defect\Cobalamin D disease
\Disorder of organic acid metabolism\Disorder of amino acid metabolism\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\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:

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

936871000052116 kobalamin D-sjukdom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	Some
Cobalamin D disease	Occurrence	Congenital	false	Inferred relationship	Some
Cobalamin D disease	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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Group

This concept is not in any reference sets