61772003: Muscle phosphoglycerate mutase deficiency (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Muscle phosphoglycerate mutase deficiency

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle phosphoglycerate mutase deficiency
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Muscle phosphoglycerate mutase deficiency
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Muscle phosphoglycerate mutase deficiency
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle phosphoglycerate mutase deficiency
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Muscle phosphoglycerate mutase deficiency
\Disease\trouble métabolique\Inborn error of metabolism\Muscle phosphoglycerate mutase deficiency
\Disease\trouble métabolique\Enzymopathy\Muscle phosphoglycerate mutase deficiency
\Disease\trouble métabolique\Disorder of carbohydrate metabolism\Muscle phosphoglycerate mutase deficiency
\Disease\Congenital disease\Inborn error of metabolism\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Muscle phosphoglycerate mutase deficiency	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	est un(e) (attribut)	Disorder of carbohydrate metabolism	true	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	est un(e) (attribut)	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	localisation d'une constatation (attribut)	Skeletal muscle system structure	true	Inferred relationship	Some	2
Muscle phosphoglycerate mutase deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets