234404008: Glucose phosphate isomerase deficiency (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\Glucose phosphate isomerase deficiency

\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Glucose phosphate isomerase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Glucose phosphate isomerase deficiency

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

351194015 Glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351195019 GPI - Glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

622717014 Glucose phosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5854411000172118 déficit en glucose-phosphate-isomérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7304391000172113 deficiëntie van glucosefosfaatisomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glucose phosphate isomerase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Glucose phosphate isomerase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Glucose phosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Glucose phosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Glucose phosphate isomerase deficiency	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to glucose phosphate isomerase deficiency	Is a	False	Glucose phosphate isomerase deficiency	Inferred relationship	Some
HNSHA due to glucose phosphate isomerase deficiency	Associated etiologic finding	False	Glucose phosphate isomerase deficiency	Inferred relationship	Some
HNSHA due to glucose phosphate isomerase deficiency	Due to	True	Glucose phosphate isomerase deficiency	Inferred relationship	Some	5

Reference Sets

Description inactivation indicator reference set