Peutz-Jeghers syndrome

ICD-11 code : LD2D.0;

Preferred Label : Peutz-Jeghers syndrome;

ICD-11 definition : Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition. Patients have an increased risk of developing intestinal cancer.;

CISMeF acronym : PJS;

Détails

Origin ID

969253189;

Automatic exact mappings (from CISMeF team)
- STK11 wt Allele [NCIt concept]
- serine/threonine kinase 11 [ORDO Gene]
Currated CISMeF NLP mapping
- Peutz Jeghers syndrome [Disease (Nov.)]
- Peutz-Jeghers Syndrome [NCIt concept]
- Peutz-Jeghers syndrome [MeSH concept]
- Peutz-Jeghers syndrome [ORDO Disease]
- Peutz-Jeghers syndrome [DO Concept]
- Peutz-Jeghers syndrome [PASCAL descriptor]
- Peutz-Jeghers syndrome [MedDRA Preferred Term]
- Peutz-Jeghers syndrome (disorder) [SNOMED CT concept]
- Peutz-jeghers syndrome [OMIM Phenotype]
- peutz-jeghers syndrome [MeSH Descriptor]
- peutz-jeghers syndrome [SNOMED Notion]
ICD-10 Mapping
- Phakomatoses, not elsewhere classified [ICD-10 category]
Validated automatic mappings to NTBT
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category]
- Phakomatoses, not elsewhere classified [ICD-10 category]

Position du mot-clé dans l'(les) arborescence(s) :

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