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234406005: Muscle phosphofructokinase deficiency (disorder)

Status: retired, Primitive. Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

351198017 PFK - Muscle phosphofructokinase deficiency en Synonym Active Case sensitive SNOMED CT core

351199013 Glycogen storage disease type VII en Synonym Active Initial character case insensitive SNOMED CT core

351200011 Tauri disease en Synonym Active Case sensitive SNOMED CT core

351201010 Muscle phosphofructokinase deficiency en Synonym Active Case insensitive SNOMED CT core

622720018 Muscle phosphofructokinase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Muscle phosphofructokinase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Is a	Erythrocyte enzyme deficiency	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Is a	Hereditary disorder of haematologic system	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Is a	Glycogen storage disease	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Finding site	Erythrocyte	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Finding site	Liver structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

Id	Description	Lang	Type	Status	Case?	Module
351198017	PFK - Muscle phosphofructokinase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
351199013	Glycogen storage disease type VII	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
351200011	Tauri disease	en	Synonym	Active	Case sensitive	SNOMED CT core
351201010	Muscle phosphofructokinase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
622720018	Muscle phosphofructokinase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core