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

2033261000005115 muskelphosphofructokinasemangel da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
muskelphosphofructokinasemangel	Is a	Erythrocyte enzyme deficiency	false	Inferred relationship	Some
muskelphosphofructokinasemangel	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
muskelphosphofructokinasemangel	Is a	Glycogen storage disease	false	Inferred relationship	Some
muskelphosphofructokinasemangel	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
muskelphosphofructokinasemangel	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
muskelphosphofructokinasemangel	Finding site	Erythrocyte	false	Inferred relationship	Some
muskelphosphofructokinasemangel	Occurrence	Congenital	false	Inferred relationship	Some
muskelphosphofructokinasemangel	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
muskelphosphofructokinasemangel	Finding site	Liver structure	false	Inferred relationship	Some
muskelphosphofructokinasemangel	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
muskelphosphofructokinasemangel	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)