peutz-jeghers syndrome

Preferred Label : peutz-jeghers syndrome;

MeSH definition : A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.;

MeSH synonym : hamartomatous intestinal polyposis; intestinal polyposes, hamartomatous; syndrome, peutz-jegher's; polyps-and-spots syndromes; syndrome, peutz-jeghers; polyps-and-spots syndrome; polyps and spots syndrome; syndrome, polyps-and-spots; lentiginoses, perioral; perioral lentiginoses; perioral lentiginosis; polyposes, hamartomatous intestinal; peutz-jegher's syndrome; peutz jegher's syndrome; peutz-jegher syndrome; lentiginosis, perioral; syndromes, polyps-and-spots; polyposis, hamartomatous intestinal; hamartomatous intestinal polyposes; intestinal polyposis, hamartomatous; Peutz-Jeghers polyposis; peutz jeghers polyposis; polyposis, Peutz-Jeghers; periorificial lentiginosis syndrome; periorificial lentiginosis syndromes; syndrome, periorificial lentiginosis; syndromes, periorificial lentiginosis; peutz jeghers syndrome;

CISMeF synonym : Peutz-Jeghers; peutz-jeghers's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Peutz-jeghers syndrome;

Details

Origin ID

D010580;

UMLS CUI

C0031269;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [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]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category]
- Peutz-Jeghers syndrome [ACR pathology]
Currated CISMeF NLP mapping
- Peutz Jeghers syndrome [Disease (Nov.)]
- Peutz-Jeghers Syndrome [NCIt concept]
- Peutz-Jeghers syndrome [PASCAL descriptor]
- Peutz-Jeghers syndrome [DO Concept]
- Peutz-Jeghers syndrome [MedDRA Preferred Term]
- Peutz-Jeghers syndrome [ICD-11 Subcategory]
- Peutz-Jeghers syndrome [ORDO Disease]
- Peutz-Jeghers syndrome (disorder) [SNOMED CT concept]
- Peutz-jeghers syndrome [OMIM Phenotype]
- peutz-jeghers syndrome [SNOMED Notion]
DO Cross reference
- Peutz-Jeghers syndrome [DO Concept]
False automatic mappings
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category (who)]
Indexing information
- STK11 protein, human [MeSH Supplementary Concept]
- Stk11 protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Genetic hyperpigmentation of the skin [ORDO Disease]
- Hyperpigmentation of the skin [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Palpebral lentiginosis [ORDO Disease]
- Pigmented conjunctival lesion [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
ORDO relation(s)
- Peutz-Jeghers syndrome [ORDO Disease]
Record concept(s)
- Peutz-Jeghers syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peutz Jeghers syndrome [Disease (Nov.)]
- Peutz-Jeghers Syndrome [NCIt concept]
- Peutz-Jeghers syndrome [ORDO Disease]
- Peutz-Jeghers syndrome [MedDRA Preferred Term]
- Peutz-Jeghers syndrome [DO Concept]
- Peutz-Jeghers syndrome [PASCAL descriptor]
- Peutz-Jeghers syndrome (disorder) [SNOMED CT concept]
- Peutz-jeghers syndrome [OMIM Phenotype]
- peutz-jeghers syndrome [SNOMED Notion]

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