loading...| Preferred Name |
obsolete_Peutz-Jeghers syndrome |
|
| Synonyms |
Peutz Jeghers polyposis polyps-and-Spots syndrome polyposis, hamartomatous intestinal lentiginosis, perioral periorificial lentiginosis syndrome PJS Peutz-Jeghers syndrome Peutz-Jeghers small bowel hamartoma Jeghers-Peutz syndrome hamartomatous intestinal polyposis Peutz-Jeghers polyp of small intestine colonic hamartomatous polyp polyps and spots syndrome Peutz's syndrome gastric Peutz-Jeghers polyp Peutz Jeghers colon polyp |
|
| Definitions |
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2869 |
|
| Obsolete |
true |
|
| closeMatch |
http://purl.obolibrary.org/obo/NCIT_C7755 http://identifiers.org/snomedct/157029009 http://identifiers.org/snomedct/53633000 http://linkedlifedata.com/resource/umls/id/C0456487 |
|
| database_cross_reference |
OMIM:175200 UMLS:C1333088 ICD10:Q85.8 Orphanet:2869 MedDRA:10034764 MESH:D010580 UMLS:C0031269 SCTID:54411001 GARD:0007378 DOID:3852 ICD9:759.6 NCIT:C3324 |
|
| definition |
Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. |
|
| deprecated |
true |
|
| exactMatch |
http://www.orpha.net/ORDO/Orphanet_2869 http://linkedlifedata.com/resource/umls/id/C1333088 http://identifiers.org/snomedct/54411001 http://identifiers.org/meddra/10034764 http://purl.obolibrary.org/obo/NCIT_C3324 http://linkedlifedata.com/resource/umls/id/C0031269 http://purl.obolibrary.org/obo/DOID_3852 |
|
| has_exact_synonym |
Peutz Jeghers colon polyp gastric Peutz-Jeghers polyp Peutz's syndrome polyps and spots syndrome colonic hamartomatous polyp Peutz-Jeghers polyp of small intestine hamartomatous intestinal polyposis Jeghers-Peutz syndrome Peutz-Jeghers small bowel hamartoma Peutz-Jeghers syndrome PJS |
|
| has_related_synonym |
periorificial lentiginosis syndrome lentiginosis, perioral polyposis, hamartomatous intestinal polyps-and-Spots syndrome Peutz Jeghers polyposis |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease |
|
| label |
obsolete_Peutz-Jeghers syndrome |
|
| obsoleted_in_version |
3.41.0 |
|
| prefLabel |
obsolete_Peutz-Jeghers syndrome |
|
| reason_for_obsolescence |
Replaced with Mondo term. |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_2869 | ORDO | SAME_URI |