124188007: Deficiency of glutathione reductase (reduced nicotinamide adenine dinucleotide phosphate) (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of glutathione reductase (NAD(P)H)

\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of glutathione reductase (NAD(P)H)
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of glutathione reductase (NAD(P)H)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency (disorder)\Deficiency of glutathione reductase (NAD(P)H)

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

203690013 Deficiency of glutathione reductase (NAD(P)H) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
727688014 Deficiency of glutathione reductase (NAD(P)H) (disorder) en Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
2975321016 Deficiency of glutathione reductase (reduced nicotinamide adenine dinucleotide phosphate) (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2975416018 Deficiency of glutathione reductase (reduced nicotinamide adenine dinucleotide phosphate) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3801361000005113 glutathionreduktasemangel (NAD(P)H) da Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) Danish module (core metadata concept)
4238291000005118 glutathionreductasemangel (NAD(P)H) da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of glutathione reductase (NAD(P)H)	Is a	Specific enzyme deficiency (disorder)	true	Inferred relationship	Some
Deficiency of glutathione reductase (NAD(P)H)	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of glutathione reductase (NAD(P)H)	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Deficiency of glutathione reductase (NAD(P)H)	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Deficiency of glutathione reductase (NAD(P)H)	Finding site	Erythrocyte	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to glutathione reductase deficiency	Is a	False	Deficiency of glutathione reductase (NAD(P)H)	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Associated etiologic finding	False	Deficiency of glutathione reductase (NAD(P)H)	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Due to	True	Deficiency of glutathione reductase (NAD(P)H)	Inferred relationship	Some	5

Reference Sets

Description inactivation indicator reference set