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61772003: Muscle phosphoglycerate mutase deficiency (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
102654012 Muscle phosphoglycerate mutase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
102655013 Phosphoglucomutase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
800871013 Muscle phosphoglycerate mutase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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 Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Is a Enzymopathy true Inferred relationship Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Is a Disorder of carbohydrate metabolism true Inferred relationship Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Is a Congenital anomaly of musculoskeletal system false Inferred relationship Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Finding site Skeletal muscle system structure true Inferred relationship Existential restriction modifier 2
Muscle phosphoglycerate mutase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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