61772003: Muscle phosphoglycerate mutase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Muscle phosphoglycerate mutase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Muscle phosphoglycerate mutase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle phosphoglycerate mutase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Muscle phosphoglycerate mutase deficiency
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Muscle phosphoglycerate mutase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle phosphoglycerate mutase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Muscle phosphoglycerate mutase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Muscle phosphoglycerate mutase deficiency
\Disease\Metabolic disease\Enzymopathy\Muscle phosphoglycerate mutase deficiency
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Muscle phosphoglycerate mutase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

102654012 Muscle phosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

102655013 Phosphoglucomutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

800871013 Muscle phosphoglycerate mutase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5276501018 GSD X - glycogen storage disease type X en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5276502013 Glycogen storage disease type X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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	false	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	Is a	Inborn error of metabolism	false	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	2
Muscle phosphoglycerate mutase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Muscle phosphoglycerate mutase deficiency	Is a	Glycogen storage disease	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets