Juvenile Polyposis Syndrome

Preferred Label : Juvenile Polyposis Syndrome;

NCIt synonyms : Juvenile Polyposis; Juvenile Multiple Polyps Syndrome; Juvenile Polyposis Coli;

NCIt definition : An autosomal dominant hereditary neoplastic syndrome. Mutations in the SMAD4 or BMPR1A genes have been identified in some patients. It is characterized by the presence of multiple juvenile polyps in the gastrointestinal tract.;

Neoplastic status : Benign;

Détails

Origin ID

C7754;

UMLS CUI

C0345893;

Automatic exact mappings (from CISMeF team)
- juvenile polyposis coli [MeSH concept]
Currated CISMeF NLP mapping
- Juvenile polyposis syndrome [MeSH concept]
- Juvenile polyposis syndrome [OMIM Phenotype]
- Juvenile polyposis syndrome [ORDO Disease]
- Juvenile polyposis syndrome (disorder) [SNOMED CT concept]
- juvenile polyposis [Disease (Nov.)]
- juvenile polyposis syndrome [DO Concept]
- juvenile polyposis syndrome [MeSH Supplementary Concept]
- juvenile polyposis syndrome [SNOMED Notion]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized juvenile polyposis/juvenile polyposis coli [ORDO Disease]
- Juvenile polyposis syndrome [OMIM Phenotype]
- Juvenile polyposis syndrome [MeSH concept]
- Juvenile polyposis syndrome [ORDO Disease]
- Juvenile polyposis syndrome [MedDRA Preferred Term]
- Juvenile polyposis syndrome (disorder) [SNOMED CT concept]
- juvenile polyposis [Disease (Nov.)]
- juvenile polyposis syndrome [MeSH Supplementary Concept]
- juvenile polyposis syndrome [DO Concept]
- juvenile polyposis syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Bone Morphogenetic Protein Receptor Type-1A [NCIt concept]
- Mothers Against Decapentaplegic Homolog 4 [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_associated_disease
- Juvenile Polyp [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- BMPR1A Gene [NCIt concept]
- SMAD4 Gene [NCIt concept]
disease_may_have_associated_disease
- Colorectal Carcinoma [NCIt concept]
- Exocrine Pancreas Carcinoma [NCIt concept]
- Gastric Carcinoma [NCIt concept]
- Small Intestinal Carcinoma [NCIt concept]
disease_may_have_molecular_abnormality
- BMPR1A Gene Mutation [NCIt concept]
- SMAD4 Gene Inactivation [NCIt concept]
pathogenesis_of_disease_involves_gene
- BMPR1A Gene [NCIt concept]
- BMPR1A wt Allele [NCIt concept]
- SMAD4 Gene [NCIt concept]
- SMAD4 wt Allele [NCIt concept]
related_to_genetic_biomarker
- BMPR1A Gene [NCIt concept]
- SMAD4 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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