124178006: Deficiency of dihydrofolate reductase (disorder)

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

\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Deficiency of dihydrofolate reductase

\Enzymopathy\Specific enzyme deficiency\Deficiency of dihydrofolate reductase

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

203667015 Deficiency of tetrahydrofolate dehydrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203668013 Deficiency of dihydrofolate reductase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473044011 Dihydrofolate reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727675011 Deficiency of dihydrofolate reductase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4770041000241118 deficit en dihydrofolate reductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3454571001000111 Konstitutionelle megaloblastäre Anämie mit schwerer neurologischer Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of dihydrofolate reductase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of dihydrofolate reductase	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
Deficiency of dihydrofolate reductase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of dihydrofolate reductase	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder)	Due to	True	Deficiency of dihydrofolate reductase	Inferred relationship	Some	1

This concept is not in any reference sets