234406005: Muscle phosphofructokinase deficiency (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

351198017 PFK - Muscle phosphofructokinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
351199013 Glycogen storage disease type VII en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
351200011 Tauri disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
351201010 Muscle phosphofructokinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622720018 Muscle phosphofructokinase deficiency (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
Muscle phosphofructokinase deficiency	Is a	Erythrocyte enzyme deficiency	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Is a	Hereditary disorder of hematologic 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 hematopoietic system	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Finding site	Hematopoietic 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
Muscle phosphofructokinase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Muscle phosphofructokinase deficiency	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)