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61772003: Muscle phosphoglycerate mutase deficiency (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
102654012 Muscle phosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
102655013 Phosphoglucomutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
800871013 Muscle phosphoglycerate mutase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Muscle phosphoglycerate mutase deficiency Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Is a Enzymopathy true Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Is a Disorder of carbohydrate metabolism true Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Is a Inborn error of metabolism true Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Finding site Skeletal muscle system structure true Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Occurrence Congenital true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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