1187461004: Glycogen storage disease due to aldolase A 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 aldolase A deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycogen storage disease due to aldolase A deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to aldolase A deficiency (disorder)
\Metabolic disease\Disorder of carbohydrate metabolism\Glycogen storage disease\Glycogen storage disease due to aldolase A deficiency (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Glycogen storage disease\Glycogen storage disease due to aldolase A deficiency (disorder)

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

4673845019 Glycogen storage disease due to aldolase A deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4673846018 Glycogen storage disease due to aldolase A deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4673848017 Glycogen storage disease type 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4673849013 Glycogen storage disease type XII en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4673850013 Glycogenosis type 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4673852017 Glycogenosis due to aldolase A deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4673853010 Glycogenosis type XII en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4673847010 An extremely rare glycogen storage disease with characteristics of hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4673851012 An extremely rare glycogen storage disease with characteristics of haemolytic anaemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without haemolytic anaemia has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12738311000172118 maladie du stockage du glycogène due à un déficit en aldolase A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

12738321000172111 glycogénose de type 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12738331000172114 glycogénose par déficit en aldolase A musculaire fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7539321000172118 glycogenose type XII nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7539331000172115 glycogeenstapelingsziekte door deficiëntie van aldolase A nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7539341000172110 glycogeenstapelingsziekte door aldolase A-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7539351000172112 glycogeenstapelingsziekte type 12 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 aldolase A deficiency (disorder)	Is a	Glycogen storage disease	true	Inferred relationship	Some
Glycogen storage disease due to aldolase A deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Glycogen storage disease due to aldolase A deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets