124179003: Deficiency of methylenetetrahydrofolate dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^)

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

203670016 Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2974060015 Deficiency of methylenetetrahydrofolate dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2974315010 Deficiency of methylenetetrahydrofolate dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5971211000172113 déficit en methylenetetrahydrofolate déshydrogénase (NADP^+^) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5259371000172113 deficiëntie van NADP^+^-afhankelijk methyleentetrahydrofolaatdehydrogenase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5259381000172111 tekort aan NADP^+^-afhankelijk MTHFD nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5259391000172114 deficiëntie van nicotinamideadeninedinucleotidefosfaat^+^-afhankelijk methyleentetrahydrofolaatdehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5259401000172111 deficiëntie van methyleentetrahydrofolaatdehydrogenase (NADP^+^) nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of methylenetetrahydrofolate dehydrogenase (NADP^+^)	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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This concept is not in any reference sets