glycogen storage disease type v

Preferred Label : glycogen storage disease type v;

MeSH definition : Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.;

MeSH synonym : glycogen storage disease type 5; muscle glycogen phosphorylase deficiency; muscle phosphorylase deficiencies; phosphorylase deficiencies, muscle; deficiency, muscle phosphorylase; mcardle's disease; glycogenosis 5; deficiencies, muscle phosphorylase; glycogenosis 5s; muscle phosphorylase deficiency; McArdle type glycogen storage disease; disease, mcardle's; mcardles disease; phosphorylase deficiency, muscle; mcardle disease; disease, mcardle; glycogen storage disease V; myophosphorylase deficiency; PYGM deficiency; deficiencies, PYGM; deficiency, PYGM; PYGM deficiencies; mcardle syndrome; mcardle syndromes; syndrome, mcardle; syndromes, mcardle; myophosphorylase deficiencies; deficiencies, myophosphorylase; deficiency, myophosphorylase;

CISMeF synonym : 5s, glycogenosis; 5, glycogenosis;

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

Wikipedia link : https://en.wikipedia.org/wiki/Myophosphorylase deficiency;

Details

Origin ID

D006012;

UMLS CUI

C0017924;

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 V Mac Ardle [PASCAL descriptor]
- MPX Negative [NCIt concept]
- glycogen phosphorylase, muscle associated [ORDO Gene]
- glycogen phosphorylase, muscle associated [HGNC gene]
Currated CISMeF NLP mapping
- Glycogen Storage Disease Type V [NCIt concept]
- Glycogen storage disease V [OMIM Phenotype]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ICD-11 More detail]
- Glycogen storage disease type V [MedDRA Preferred Term]
- Glycogen storage disease, type V (disorder) [SNOMED CT concept]
- Glycogenosis type V [MedDRA LLT]
- McArdle's disease [MedDRA LLT]
- McArdles disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- glycogen storage disease V [DO Concept]
- glycogen storage disease type 5 [Disease (Nov.)]
- glycogen storage disease, type v [SNOMED Notion]
DO Cross reference
- glycogen storage disease V [DO Concept]
Manual NTBT mappings (CISMeF)
- Muscular glycogenosis [ORDO Disease]
ORDO relation(s)
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
Record concept(s)
- glycogen storage disease type V [MeSH concept]
See also
- glycogen phosphorylase, muscle form [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease Type V [NCIt concept]
- Glycogen storage disease V [OMIM Phenotype]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type V [MedDRA Preferred Term]
- Glycogen storage disease, type V (disorder) [SNOMED CT concept]
- Glycogenosis type V [MedDRA LLT]
- McArdle's disease [MedDRA LLT]
- McArdles disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- glycogen storage disease V [DO Concept]
- glycogen storage disease type 5 [Disease (Nov.)]
- glycogen storage disease, type v [SNOMED Notion]

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