124331002: Deficiency of pyruvate kinase (disorder)

SNOMED CT Concept\constatation clinique\Disease\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of pyruvate kinase

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

1220694016 PK - Pyruvate kinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1495625017 Pyruvate kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204066017 Deficiency of phosphoenolpyruvate kinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204067014 Deficiency of phosphoenol transphosphorylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204068016 Deficiency of pyruvate kinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

727969017 Deficiency of pyruvate kinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of pyruvate kinase	est un(e) (attribut)	Deficiency of transferase	true	Inferred relationship	Some
Deficiency of pyruvate kinase	est un(e) (attribut)	affection d'un système corporel	false	Inferred relationship	Some
Deficiency of pyruvate kinase	localisation d'une constatation (attribut)	Entire hematological system (body structure)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pyruvate kinase deficiency spot test	a pour objet (attribut)	True	Deficiency of pyruvate kinase	Inferred relationship	Some	1
Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)	Due to	True	Deficiency of pyruvate kinase	Inferred relationship	Some	2
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	est un(e) (attribut)	False	Deficiency of pyruvate kinase	Inferred relationship	Some
Hemolytic anemia due to pyruvate kinase deficiency	Associated aetiologic finding	False	Deficiency of pyruvate kinase	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	Associated aetiologic finding	False	Deficiency of pyruvate kinase	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	Due to	True	Deficiency of pyruvate kinase	Inferred relationship	Some	5
Hemolytic anemia due to pyruvate kinase deficiency	Due to	False	Deficiency of pyruvate kinase	Inferred relationship	Some	5

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)