Gardner Syndrome

Preferred Label : Gardner Syndrome;

NCIt synonyms : Gardner's Syndrome; Gardner s Syndrome;

NCIt definition : A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene.;

Details

Origin ID

C6728;

UMLS CUI

C0017097;

Currated CISMeF NLP mapping
- Familial adenomatous polyposis 1 [OMIM Phenotype]
- 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 [MeSH Descriptor]
- gardner syndrome [MeSH concept]
- gardner syndrome [SNOMED Notion]
Disease may have findings
- Abdominal Pain [NCIt concept]
- Diarrhea [NCIt concept]
- Epidermal Inclusion Cyst [NCIt concept]
- Lower Gastrointestinal Hemorrhage [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 [MeSH concept]
- gardner syndrome [SNOMED Notion]
- gardner syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_has_associated_disease
- Adenomatous Polyp [NCIt concept]
- Colon Adenoma [NCIt concept]
- Colorectal Carcinoma [NCIt concept]
disease_has_associated_disease
- Gardner Fibroma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Inactivating APC Gene Mutation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 5 [NCIt concept]
disease_mapped_to_gene
- APC Gene [NCIt concept]
disease_may_have_associated_disease
- Fibromatosis [NCIt concept]
- Osteoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- APC Gene [NCIt concept]
- APC wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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