124188007: deficiëntie van glutathiondisulfidereductase (aandoening)

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\Hematological disorder (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Deficiency of glutathione reductase (NAD(P)H)
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\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

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

6822521000146113 glutathionreductasedeficiëntie (NADPH) nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6912001000146110 deficiëntie van glutathionreductase (gereduceerd nicotinamideadeninedinucleotidefosfaat) nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11698721000146116 deficiëntie van glutathiondisulfidereductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11698731000146119 deficiëntie van glutathiondisulfidereductase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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	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
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	Is a	False	Deficiency of glutathione reductase (NAD(P)H)	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	Associated etiologic finding	False	Deficiency of glutathione reductase (NAD(P)H)	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	Due to	True	Deficiency of glutathione reductase (NAD(P)H)	Inferred relationship	Some	5

Reference Sets