gardner syndrome

Preferred Label : gardner syndrome;

MeSH definition : A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.;

MeSH synonym : syndromes, gardner; gardner syndromes; Gardners Syndrome; Syndrome, Gardner's; Syndromes, Gardner's; Gardner's Syndrome; Gardner's Syndromes; syndrome, gardner;

Wikipedia link : https://en.wikipedia.org/wiki/Gardner's syndrome;

Details

Origin ID

D005736;

UMLS CUI

C0017097;

Allowable qualifiers
- blood [MeSH Qualifier]
- blood supply [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- chemistry [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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]
- secondary [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- ultrastructure [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Familial adenomatous polyposis 1 [OMIM Phenotype]
- Gardner Syndrome [NCIt concept]
- Gardner syndrome [PASCAL descriptor]
- Gardner syndrome [Disease (Nov.)]
- Gardner syndrome [ICD-11 Subcategory]
- Gardner syndrome [ORDO Disease]
- Gardner syndrome (disorder) [SNOMED CT concept]
- Gardner's syndrome [MedDRA LLT]
- gardner syndrome [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Disease with potential neoplastic degeneration associated with ocular features [ORDO Disease]
- Genetic skin tumor or hamartoma [ORDO Disease]
- Inherited cancer-predisposing syndrome [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Palpebral sebaceous gland tumor [ORDO Disease]
- Rare skin tumor or hamartoma [ORDO Disease]
ORDO relation(s)
- Gardner syndrome [ORDO Disease]
Record concept(s)
- gardner syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- adenomatous polyposis coli, attenuated [MeSH Supplementary Concept]
- intestinal polyposis, osteomas, sebaceous cysts [MeSH Supplementary Concept]
- samson gardner syndrome [MeSH Supplementary Concept]
See also
- adenomatous polyposis coli [MeSH Descriptor]
- adenomatous polyposis coli protein [MeSH Descriptor]
- genes, apc [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gardner Syndrome [NCIt concept]
- Gardner syndrome [ORDO Disease]
- Gardner syndrome [PASCAL descriptor]
- Gardner syndrome [Disease (Nov.)]
- Gardner syndrome (disorder) [SNOMED CT concept]
- Gardner's syndrome [MedDRA LLT]
- gardner syndrome [SNOMED Notion]

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