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Glycogen Storage Disease (CUI C0017919) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0017919

NCI Thesaurus Code: C61272  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.

CSP Definition: any of a group of metabolic disorders characterized by excessive storage of glycogen.

MSH Definition: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.

Synonyms & Abbreviations: (see Synonym Details)
Disease, Glycogen Storage
Diseases, Glycogen Storage
Glycogen storage disease (disorder)
Glycogen Storage Disease [Disease/Finding]
Glycogen storage disease, unspecified
Glycogen Storage Diseases
glycogen storage disease
Glycogen storage disorder NOS
Glycogen storage disorder
GLYCOGEN STORAGE DIS
Glycogenoses
glycogenosis
GSD - Glycogen storage disease
Storage Disease, Glycogen
Storage Diseases, Glycogen

External Source Codes: 
NCI Thesaurus Code C61272 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID C310. SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DID 4000-0193 CSP
DX 19890101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HN 89; was GLYCOGENOSIS 1963-88 MSH
IAN DEFAULT ICD10
ICE Amylopectinosis; Glucose-6-phosphatase deficiency; Glycogen storage disease; McArdle's disease; Pompe's disease; von Gierke's disease ICD9CM
INCLUSION_TERM Cardiac glycogenosis ICD10
INCLUSION_TERM Disease: Andersen ICD10
INCLUSION_TERM Disease: Cori ICD10
INCLUSION_TERM Disease: Forbes ICD10
INCLUSION_TERM Disease: Hers ICD10
INCLUSION_TERM Disease: McArdle ICD10
INCLUSION_TERM Disease: Pompe ICD10
INCLUSION_TERM Disease: Tarui ICD10
INCLUSION_TERM Disease: Tauri ICD10
INCLUSION_TERM Disease: von Gierke ICD10
INCLUSION_TERM Liver phosphorylase deficiency ICD10
MDA 19990101 MSH
MESH_DEFINITION A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. NDFRT
MESH_DUI D006008 NDFRT
MESH_NAME Glycogen Storage Disease NDFRT
MESH_UI M0009469 NDFRT
MMR 20060705 MSH
MN C16.320.565.202.449 MSH
MN C18.452.648.202.449 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Glycogen Storage Disease NCI
NUI N0000001361 NDFRT
OL use GLYCOGEN STORAGE DISEASE to search GLYCOGENOSIS 1966-88 MSH
ORDER_NO 04605 ICD10CM
ORDER_NO 04606 ICD10CM
PM 89; was GLYCOGENOSIS 1963-88 MSH
PRIMARY_PATH 10061990$10021604$10027424$10010331$Glycogen storage disorder$Inborn errors of carbohydrate metabolism (excl glucose)$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RXAUI 3166361 RXNORM
RXAUI 3166384 RXNORM
RXAUI 3166402 RXNORM
RXCUI 1022993 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 29633007 NDFRT
SNOMEDID D6-50200 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E74.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E74.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E74.00 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E74.00 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C310. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-50200 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T018257 MSH
TERMUI T018258 MSH
TH NLM (1966) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0017919

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