1296847007: Methylcobalamin deficiency type cblE (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Homocystinuria without methylmalonic aciduria (disorder)\Methylcobalamin deficiency type cblE

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\...

\Functional defects of methionine synthase\Homocystinuria without methylmalonic aciduria (disorder)\Methylcobalamin deficiency type cblE

\Homocystinuria\Homocystinuria without methylmalonic aciduria (disorder)\Methylcobalamin deficiency type cblE

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5287310013 Methylcobalamin deficiency type cblE en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5287311012 Methylcobalamin deficiency type cblE (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5287312017 Functional methionine synthase deficiency type cblE en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Methylcobalamin deficiency type cblE	Is a	Homocystinuria without methylmalonic aciduria (disorder)	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set