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Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D010580
http://purl.bioontology.org/ontology/MESH/D010580
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|---|---|
| Preferred Name | Peutz-Jeghers Syndrome |
| Definitions |
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.
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| Synonyms |
Peutz-Jegher Syndrome
Syndromes, Polyps-and-Spots
Syndrome, Peutz-Jeghers
Syndromes, Periorificial Lentiginosis
Perioral Lentiginosis
Lentiginosis, Perioral
Polyps-and-Spots Syndrome
Polyposes, Hamartomatous Intestinal
Polyposis, Peutz-Jeghers
Peutz Jeghers Polyposis
Perioral Lentiginoses
Peutz-Jeghers Polyposis
Hamartomatous Intestinal Polyposis
Polyps-and-Spots Syndromes
Intestinal Polyposis, Hamartomatous
Hamartomatous Intestinal Polyposes
Lentiginoses, Perioral
Peutz Jegher's Syndrome
Periorificial Lentiginosis Syndrome
Syndrome, Polyps-and-Spots
Peutz Jeghers Syndrome
Polyposis, Hamartomatous Intestinal
Polyps and Spots Syndrome
Syndrome, Periorificial Lentiginosis
Periorificial Lentiginosis Syndromes
Peutz-Jegher's Syndrome
Intestinal Polyposes, Hamartomatous
Syndrome, Peutz-Jegher's
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| altLabel |
Peutz-Jegher Syndrome
Syndromes, Polyps-and-Spots
Syndrome, Peutz-Jeghers
Syndromes, Periorificial Lentiginosis
Perioral Lentiginosis
Lentiginosis, Perioral
Polyps-and-Spots Syndrome
Polyposes, Hamartomatous Intestinal
Polyposis, Peutz-Jeghers
Peutz Jeghers Polyposis
Perioral Lentiginoses
Peutz-Jeghers Polyposis
Hamartomatous Intestinal Polyposis
Polyps-and-Spots Syndromes
Intestinal Polyposis, Hamartomatous
Hamartomatous Intestinal Polyposes
Lentiginoses, Perioral
Peutz Jegher's Syndrome
Periorificial Lentiginosis Syndrome
Syndrome, Polyps-and-Spots
Peutz Jeghers Syndrome
Polyposis, Hamartomatous Intestinal
Polyps and Spots Syndrome
Syndrome, Periorificial Lentiginosis
Periorificial Lentiginosis Syndromes
Peutz-Jegher's Syndrome
Intestinal Polyposes, Hamartomatous
Syndrome, Peutz-Jegher's
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| prefLabel |
Peutz-Jeghers Syndrome
|
| TH |
NLM (1965)
OMIM (2013)
NLM (2004)
NLM (1993)
UNK (19XX)
GHR (2014)
NLM (2011)
ORD (2010)
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| notation |
D010580
|
| DX |
19650101
|
| Machine permutation |
65; was see under POLYPI (now POLYPS) 1963-64
|
| MN |
C06.405.469.578.750
C17.800.621.430.530.550.625
C04.700.633
C16.320.700.667
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| MMR |
20180629
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| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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| HN |
65; was see under POLYPI (now POLYPS) 1963-64
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| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
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| MDA |
19990101
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| type | |
| tui |
T047
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| cui |
C0031269
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| Inverse of AQ |
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| TERMUI |
T530205
T769777
T530204
T031235
T769778
T031236
T031234
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