124331002: Deficiency of pyruvate kinase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of pyruvate kinase (disorder)

Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
204066017	Deficiency of phosphoenolpyruvate kinase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
204067014	Deficiency of phosphoenol transphosphorylase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
204068016	Deficiency of pyruvate kinase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	Concept inactivation indicator reference set: Duplicate component (foundation metadata concept)
727969017	Deficiency of pyruvate kinase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1220694016	PK - Pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1495625017	Pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of pyruvate kinase (disorder)	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of pyruvate kinase (disorder)	Finding site	Entire hematological system (body structure)	false	Inferred relationship	Some
Deficiency of pyruvate kinase (disorder)	Is a	Disorder of body system	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to pyruvate kinase deficiency	Is a	False	Deficiency of pyruvate kinase (disorder)	Inferred relationship	Some
Haemolytic anaemia due to pyruvate kinase deficiency	Associated etiologic finding	False	Deficiency of pyruvate kinase (disorder)	Inferred relationship	Some
HNSHA due to pyruvate kinase deficiency	Associated etiologic finding	False	Deficiency of pyruvate kinase (disorder)	Inferred relationship	Some
HNSHA due to pyruvate kinase deficiency	Due to	True	Deficiency of pyruvate kinase (disorder)	Inferred relationship	Some
Haemolytic anaemia due to pyruvate kinase deficiency	Due to	True	Deficiency of pyruvate kinase (disorder)	Inferred relationship	Some

This concept is not in any reference sets