Peutz-Jeghers Syndrome

Preferred Label : Peutz-Jeghers Syndrome;

NCIt synonyms : Jeghers-Peutz Syndrome; Peutz's Syndrome;

NCIt related terms : Peutz-Jeghers Disease; PJS;

NCIt definition : An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome.;

Alternative definition : NCI-GLOSS: A genetic disorder in which polyps form in the intestine and dark spots appear on the mouth and fingers. Having Peutz-Jeghers syndrome increases the risk of developing gastrointestinal and many other types of cancer.;

Codes from synonyms : CDR0000377716; CDR0000377717;

Details

Origin ID

C3324;

UMLS CUI

C0031269;

Automatic exact mappings (from CISMeF team)
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category (who)]
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category]
- Peutz-Jeghers syndrome [ACR pathology]
- serine/threonine kinase 11 [ORDO Gene]
Currated CISMeF NLP mapping
- Peutz Jeghers syndrome [Disease (Nov.)]
- Peutz-Jeghers syndrome [PASCAL descriptor]
- Peutz-Jeghers syndrome [DO Concept]
- Peutz-Jeghers syndrome [ICD-11 Subcategory]
- Peutz-Jeghers syndrome [MedDRA Preferred Term]
- Peutz-Jeghers syndrome [MeSH concept]
- Peutz-Jeghers syndrome [ORDO Disease]
- Peutz-Jeghers syndrome (disorder) [SNOMED CT concept]
- Peutz-jeghers syndrome [OMIM Phenotype]
- peutz-jeghers syndrome [MeSH Descriptor]
- peutz-jeghers syndrome [SNOMED Notion]
DO Cross reference
- Peutz-Jeghers syndrome [DO Concept]
False automatic mappings
- Peutz-Jeghers syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peutz Jeghers syndrome [Disease (Nov.)]
- Peutz-Jeghers syndrome [ORDO Disease]
- Peutz-Jeghers syndrome [PASCAL descriptor]
- Peutz-Jeghers syndrome [DO Concept]
- Peutz-Jeghers syndrome [MedDRA Preferred Term]
- Peutz-Jeghers syndrome [MeSH concept]
- Peutz-Jeghers syndrome (disorder) [SNOMED CT concept]
- Peutz-jeghers syndrome [OMIM Phenotype]
- peutz-jeghers syndrome [SNOMED Notion]
- peutz-jeghers syndrome [MeSH Descriptor]
associated_with_malfunction_of_gene_product
- Serine/Threonine-Protein Kinase STK11 [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Pancreatic Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
disease_has_associated_disease
- Peutz-Jeghers Polyp [NCIt concept]
disease_has_associated_disease
- Colorectal Peutz-Jeghers Polyp [NCIt concept]
- Ovarian Sex Cord-Stromal Tumor Associated with Peutz-Jeghers Syndrome [NCIt concept]
- Peutz-Jeghers Polyp [NCIt concept]
- Peutz-Jeghers Polyp of the Small Intestine [NCIt concept]
- Peutz-Jeghers Polyp of the Stomach [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- STK11 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- STK11 Gene [NCIt concept]
disease_may_have_associated_disease
- Breast Carcinoma [NCIt concept]
- Cervical Carcinoma [NCIt concept]
- Exocrine Pancreas Carcinoma [NCIt concept]
- Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia [NCIt concept]
- Malignant Testicular Germ Cell Tumor [NCIt concept]
- Ovarian Carcinoma [NCIt concept]
- Small Intestinal Carcinoma [NCIt concept]
may_be_associated_disease_of_disease
- Borderline Fallopian Tube Mucinous Tumor [NCIt concept]
- Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia [NCIt concept]
- Ovarian Sertoli Cell Tumor [NCIt concept]
- Ovarian Sertoli Cell Tumor with Lipid Storage [NCIt concept]
- Ovarian Sex Cord Tumor with Annular Tubules [NCIt concept]
pathogenesis_of_disease_involves_gene
- STK11 Gene [NCIt concept]
- STK11 wt Allele [NCIt concept]
related_to_genetic_biomarker
- STK11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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