82245003: Cobalamin B disease (disorder)

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

\Disorder of organic acid metabolism\Disorder of propionate AND/OR methylmalonate metabolism\Methylmalonic acidemia\Adenosylcobalamin synthesis defect\Cobalamin B 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 synthesis defect\Cobalamin B disease
\Disorder of organic acid metabolism\Non-amino organic acidemia AND/OR aciduria\Methylmalonic acidemia\Adenosylcobalamin synthesis defect\Cobalamin B disease

\Disorder of acid-base balance\Acidemia\Methylmalonic acidemia\Adenosylcobalamin synthesis defect\Cobalamin B disease

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

Descriptions:

Id Description Lang Type Status Case? Module

136416016 Cobalamin B disease en Synonym Active Only initial character case insensitive SNOMED CT core module

823627018 Cobalamin B disease (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1216991019 CblB methylmalonic acidaemia en Synonym Active Entire term case sensitive SNOMED CT core module

1218482016 CblB methylmalonic acidemia en Synonym Active Entire term case sensitive SNOMED CT core module

1234693011 CblB - Cobalamin locus B en Synonym Active Entire term case sensitive SNOMED CT core module

1234694017 Cobalamin locus B variant en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cobalamin B disease	Is a	Adenosylcobalamin synthesis defect	true	Inferred relationship	Existential restriction modifier
Cobalamin B disease	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Cobalamin B disease	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets