glycogen storage disease type vii

Preferred Label : glycogen storage disease type vii;

MeSH definition : An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.;

MeSH synonym : disease, tarui's; disease, tarui; phosphofructokinase deficiency, muscle; taruis disease; muscle phosphofructokinase deficiency; deficiency, muscle phosphofructokinase; deficiencies, muscle phosphofructokinase; muscle phosphofructokinase deficiencies; phosphofructokinase deficiencies, muscle; tarui disease; tarui's disease; glycogenosis 7; pfkm deficiency; deficiencies, pfkm; deficiency, pfkm; pfkm deficiencies; GSD VII; glycogen storage disease VII;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Glycogen storage disease type vii;

Details

Origin ID

D006014;

UMLS CUI

C0017926;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogenosis VII [PASCAL descriptor]
- Glycogenosis type VII [MedDRA LLT]
Currated CISMeF NLP mapping
- Glycogen Storage Disease Type VII [NCIt concept]
- Glycogen storage disease VII [OMIM Phenotype]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ICD-11 More detail]
- Glycogen storage disease type VII [MedDRA Preferred Term]
- Glycogen storage disease, type VII (disorder) [SNOMED CT concept]
- Muscle phosphofructokinase deficiency (disorder) [Inactive SNOMED CT concept]
- Tarui disease [MedDRA LLT]
- glycogen storage disease VII [DO Concept]
- glycogen storage disease type 7 [Disease (Nov.)]
- glycogen storage disease, type vii [SNOMED Notion]
DO Cross reference
- glycogen storage disease VII [DO Concept]
False automatic mappings
- Glycogen storage disease type VIII [MedDRA Preferred Term]
- Glycogen storage disease type VIII (disorder) [SNOMED CT concept]
- Glycogenosis type VIII [MedDRA LLT]
- glycogen storage disease type viii [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Hemolytic anemia due to a disorder of glycolytic enzymes [ORDO Disease]
- Muscular glycogenosis [ORDO Disease]
- Rare constitutional hemolytic anemia [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Phosphofructokinase-1, muscle type [MeSH Descriptor]
Record concept(s)
- glycogen storage disease type VII [MeSH concept]
See also
- Phosphofructokinase-1 [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease Type VII [NCIt concept]
- Glycogen storage disease VII [OMIM Phenotype]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ICD-11 More detail]
- Glycogen storage disease type VII [MedDRA Preferred Term]
- Glycogen storage disease, type VII (disorder) [SNOMED CT concept]
- Glycogenosis type VII [MedDRA LLT]
- Muscle phosphofructokinase deficiency (disorder) [Inactive SNOMED CT concept]
- Tarui disease [MedDRA LLT]
- glycogen storage disease VII [DO Concept]
- glycogen storage disease type 7 [Disease (Nov.)]
- glycogen storage disease, type vii [SNOMED Notion]
Validated automatic mappings to BTNT
- Tarui disease [MedDRA LLT]

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