Preferred Name

Peutz-Jeghers Syndrome [Disease/Finding]

Synonyms

Polyps-and-Spots Syndrome

ID

http://purl.bioontology.org/ontology/NDFRT/N0000002382

altLabel

Polyps-and-Spots Syndrome

Peutz-Jeghers Polyposis

Peutz-Jeghers Syndrome

Peutz-Jegher's Syndrome

Polyposis, Hamartomatous Intestinal

Lentiginosis, Perioral

Periorificial Lentiginosis Syndrome

cui

C0031269

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 DUI

D010580

MeSH name

Peutz-Jeghers Syndrome

MESH UI

M0016441

NDFRT kind

DISEASE_KIND

notation

N0000002382

NUI

N0000002382

prefLabel

Peutz-Jeghers Syndrome [Disease/Finding]

SNOMED CID

54411001

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000011109

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http://purl.bioontology.org/ontology/CSP/2010-0179 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10034764 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/602216 OMIM CUI
http://purl.bioontology.org/ontology/CSP/1248-3971 CRISP CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-01035 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/175200 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54411001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D010580 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/Q85.8 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/PK60. RCD CUI