1187462006: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4673854016 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4673855015 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4673856019 Glycogenosis due to phosphoglycerate kinase 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4673857011 A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy and various central nervous system abnormalities. The majority of patients present with chronic hemolytic anemia, which may be severe in some cases. Myopathy is a common finding. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent and other central nervous system manifestations may be also present. Caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. Inherited as an X-linked trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4673858018 A rare inborn error of metabolism characterised by variable combinations of non-spherocytic haemolytic anemia, myopathy and various central nervous system abnormalities. The majority of patients present with chronic haemolytic anaemia, which may be severe in some cases. Myopathy is a common finding. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent and other central nervous system manifestations may be also present. Caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. Inherited as an X-linked trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12712371000172117 glycogénose par déficit en phosphoglycérate kinase 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12712381000172119 maladie du stockage du glycogène due à un déficit en phosphoglycérate kinase 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12712391000172116 glycogénose par déficit en PKG1 (phosphoglycérate kinase 1) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7400881000172115 glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatkinase 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7400891000172117 glycogenose door deficiëntie van fosfoglyceraatkinase 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4673854016	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673855015	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673856019	Glycogenosis due to phosphoglycerate kinase 1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673857011	A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy and various central nervous system abnormalities. The majority of patients present with chronic hemolytic anemia, which may be severe in some cases. Myopathy is a common finding. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent and other central nervous system manifestations may be also present. Caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. Inherited as an X-linked trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673858018	A rare inborn error of metabolism characterised by variable combinations of non-spherocytic haemolytic anemia, myopathy and various central nervous system abnormalities. The majority of patients present with chronic haemolytic anaemia, which may be severe in some cases. Myopathy is a common finding. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent and other central nervous system manifestations may be also present. Caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. Inherited as an X-linked trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12712371000172117	glycogénose par déficit en phosphoglycérate kinase 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12712381000172119	maladie du stockage du glycogène due à un déficit en phosphoglycérate kinase 1	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12712391000172116	glycogénose par déficit en PKG1 (phosphoglycérate kinase 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7400881000172115	glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatkinase 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7400891000172117	glycogenose door deficiëntie van fosfoglyceraatkinase 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)