Hereditary Pancreatitis

Preferred Label : Hereditary Pancreatitis;

NCIt definition : A disorder characterized by recurrent episodes of pancreatitis that start at a young age. It is caused by mutations in the PRSS1 or SPINK1 genes. Patients are at a high risk of developing pancreatic carcinoma.;

Détails

Origin ID

C95436;

UMLS CUI

C0238339;

Currated CISMeF NLP mapping
- Hereditary chronic pancreatitis [ORDO Disease]
- Hereditary pancreatitis [MedDRA Preferred Term]
- Hereditary pancreatitis [MeSH concept]
- Hereditary pancreatitis (disorder) [SNOMED CT concept]
- Pancreatitis, hereditary [OMIM Phenotype]
- hereditary pancreatitis [Disease (Nov.)]
- hereditary pancreatitis [Radlex concept]
- hereditary pancreatitis [MeSH Supplementary Concept]
- hereditary pancreatitis [SNOMED Notion]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial chronic pancreatitis (disorder) [SNOMED CT concept]
- Hereditary chronic pancreatitis [ORDO Disease]
- Hereditary pancreatitis [MeSH concept]
- Hereditary pancreatitis [MedDRA Preferred Term]
- Hereditary pancreatitis (disorder) [SNOMED CT concept]
- Pancreatitis, hereditary [OMIM Phenotype]
- hereditary pancreatitis [MeSH Supplementary Concept]
- hereditary pancreatitis [Radlex concept]
- hereditary pancreatitis [Disease (Nov.)]
- hereditary pancreatitis [SNOMED Notion]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Pancreatic Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
disease_mapped_to_gene
- PRSS1 Gene [NCIt concept]
- SPINK1 Gene [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients