glycogen storage disease type vi

Preferred Label : glycogen storage disease type vi;

MeSH definition : A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.;

MeSH synonym : hers disease; hers' disease; glycogenosis vi; disease, hers; glycogenosis type vi; type vi, glycogenosis; glycogenosis 6; disease, hers'; her disease; hepatic glycogen phosphorylase deficiency; liver phosphorylase deficiency syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Hers' disease;

Details

Origin ID

D006013;

UMLS CUI

C0017925;

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)
- Adult neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Argentinian hemorrhagic fever (disorder) [SNOMED CT concept]
- Basedow's disease [MedDRA Preferred Term]
- Bauxite fibrosis of lung (disorder) [SNOMED CT concept]
- Brass-founders' fever (disorder) [SNOMED CT concept]
- Chagas' disease [MedDRA LLT]
- Coats' disease [MedDRA LLT]
- Coats' disease (disorder) [SNOMED CT concept]
- Corbus' disease [MedDRA LLT]
- Cotunnius' disease [MedDRA LLT]
- Deficiency of phosphorylase kinase (disorder) [SNOMED CT concept]
- Disease [PASCAL descriptor]
- Disease (disorder) [SNOMED CT concept]
- Disease ID [EDAM data]
- Disease or Disorder [NCIt concept]
- Eales' disease [MedDRA Preferred Term]
- Eales' disease (disorder) [SNOMED CT concept]
- Exudative retinopathy [MedDRA Preferred Term]
- Flax-dressers' disease (disorder) [SNOMED CT concept]
- Forbes' disease [MedDRA LLT]
- GRAVES' DISEASE [WHO-ART Included Term]
- Glycogen Storage Disease Type IX [NCIt concept]
- Glycogen storage disease [ICD-10 Sub-category]
- Glycogen storage disease [ICD-10 Sub-category (who)]
- Glycogen storage disease [ORDO Disease]
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ICD-11 More detail]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogen storage disease type IX [MedDRA Preferred Term]
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
- Glycogen storage disease, type IX (disorder) [Inactive SNOMED CT concept]
- Glycogen storage disorder [MedDRA Preferred Term]
- Glycogen storage disorder NOS [MedDRA LLT]
- Glycogenoses [MedDRA LLT]
- Glycogenosis [ICD-9 code]
- Glycogenosis [MedDRA LLT]
- Graves Disease [NCIt concept]
- Graves' disease [MedDRA LLT]
- Graves' disease (disorder) [SNOMED CT concept]
- Gross' disease (disorder) [SNOMED CT concept]
- Infection caused by Trypanosoma cruzi (disorder) [SNOMED CT concept]
- Inhalational anthrax (disorder) [SNOMED CT concept]
- Juvenile osteochondrosis of head of humerus (disorder) [SNOMED CT concept]
- Juvenile osteochondrosis of lower ulna (disorder) [SNOMED CT concept]
- Kuess' disease (disorder) [SNOMED CT concept]
- Legionnaires disease [ORDO Disease]
- Lichen nitidus (disorder) [SNOMED CT concept]
- Malignant atrophic papulosis (disorder) [SNOMED CT concept]
- Marginal periodontitis (disorder) [SNOMED CT concept]
- Panhypopituitarism (disorder) [SNOMED CT concept]
- Partial lipodystrophy [MedDRA Preferred Term]
- Perthes' disease [MedDRA LLT]
- Physically Feel in Excellent Condition [NCIt concept]
- Primary progressive cerebellar degeneration (disorder) [SNOMED CT concept]
- Progressive sclerosing poliodystrophy (disorder) [SNOMED CT concept]
- Simons' disease [MedDRA LLT]
- Still disease [PASCAL descriptor]
- Stokvis' disease (disorder) [SNOMED CT concept]
- Subcorneal pustular dermatosis (disorder) [SNOMED CT concept]
- Tularemia (disorder) [SNOMED CT concept]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- alpers' disease [MedDRA Preferred Term]
- disease [ORDO Disease]
- disease [OBI concept]
- disease, nos [SNOMED Notion]
- eales' disease [SNOMED Notion]
- glycogen phosphorylase L [ORDO Gene]
- glycogen phosphorylase L [HGNC gene]
- glycogen storage disease VI [DO Concept]
- glycogen storage disease, nos [SNOMED Notion]
- glycogen storage disease, type ix [SNOMED Notion]
- gross' disease [SNOMED Notion]
- kuess' disease [SNOMED Notion]
- legionnaires' disease [MedlinePlus Topic]
- stokvis' disease [SNOMED Notion]
- thyroid diseases [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Glycogen Storage Disease Type VI [NCIt concept]
- Glycogen storage disease VI [OMIM Phenotype]
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type VI [MedDRA Preferred Term]
- Glycogen storage disease, type VI (disorder) [SNOMED CT concept]
- Glycogenosis VI Hers [PASCAL descriptor]
- Glycogenosis type VI [MedDRA LLT]
- Hepatic glycogen phosphorylase deficiency (disorder) [Inactive SNOMED CT concept]
- Hers glycogenosis [MedDRA LLT]
- glycogen storage disease type 6 [Disease (Nov.)]
- glycogen storage disease, type vi [SNOMED Notion]
DO Cross reference
- glycogen storage disease VI [DO Concept]
False automatic mappings
- Disease related state (finding) [SNOMED CT concept]
- Disorder of face (disorder) [SNOMED CT concept]
- Erythema infectiosum [MedDRA Preferred Term]
- General health [LOINC component]
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease due to phosphorylase kinase deficiency [ORDO Disease]
- fifth disease [MedlinePlus Topic]
- juvenile arthritis [MedlinePlus Topic]
- no disease [ICPC-2 Rubric]
Manual BTNT mappings - CISMeF
- Fanconi-Bickel syndrome [ORDO Disease]
- Glycogen storage disease due to muscle phosphorylase kinase deficiency [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Glycogen storage disease with hypertrophic cardiomyopathy [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
Record concept(s)
- glycogen storage disease type VI [MeSH concept]
See also
- glycogen phosphorylase, liver form [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease Type VI [NCIt concept]
- Glycogen storage disease VI [OMIM Phenotype]
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type VI [MedDRA Preferred Term]
- Glycogen storage disease, type VI (disorder) [SNOMED CT concept]
- Glycogenosis type VI [MedDRA LLT]
- Hepatic glycogen phosphorylase deficiency (disorder) [Inactive SNOMED CT concept]
- Hers glycogenosis [MedDRA LLT]
- glycogen storage disease VI [DO Concept]
- glycogen storage disease type 6 [Disease (Nov.)]
- glycogen storage disease, type vi [SNOMED Notion]

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