Papillon-Lefèvre syndrome

Preferred Label : Papillon-Lefèvre syndrome;

ICD-11 definition : Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset of destructive periodontitis leading to premature loss of both primary and permanent dentitions.;

ICD-11 synonym : Cathepsin C deficiency;

Details

Origin ID

1656270982;

UMLS CUI

C0030360;

Automatic exact mappings (from CISMeF team)
- Papillon-Lefevre syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Papillon-Lefevre Syndrome [NCIt concept]
- Papillon-Lefevre disease [MeSH concept]
- Papillon-Lefèvre syndrome [ORDO Disease]
- Papillon-Lefèvre syndrome (disorder) [SNOMED CT concept]
- Papillon-lefevre syndrome [OMIM Phenotype]
- papillon-lefevre disease [MeSH Descriptor]
- papillon-lefevre syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Papillon-Lefevre Syndrome [NCIt concept]
- Papillon-Lefevre disease [DO Concept]
- Papillon-Lefevre disease [MeSH concept]
- Papillon-Lefevre disease [Disease (Nov.)]
- Papillon-Lefevre syndrome [MedDRA Preferred Term]
- Papillon-Lefèvre syndrome [ORDO Disease]
- Papillon-Lefèvre syndrome (disorder) [SNOMED CT concept]
- Papillon-lefevre syndrome [OMIM Phenotype]
- papillon-lefevre disease [MeSH Descriptor]
- papillon-lefevre syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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