Papillon-Lefevre Syndrome

Preferred Label : Papillon-Lefevre Syndrome;

NCIt synonyms : Papillon-Lefevre Disease;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the cathepsin C gene. It is manifested with periodontitis resulting in the premature loss of teeth and palmoplantar keratoderma.;

Details

Origin ID

C84992;

UMLS CUI

C0030360;

Automatic exact mappings (from CISMeF team)
- Papillon-Lefevre syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Papillon-Lefevre disease [DO Concept]
- Papillon-Lefevre disease [Disease (Nov.)]
- Papillon-Lefevre disease [MeSH concept]
- Papillon-Lefèvre syndrome [ICD-11 More detail]
- 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]
DO Cross reference
- Papillon-Lefevre disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Papillon-Lefevre disease [DO Concept]
- Papillon-Lefevre disease [Disease (Nov.)]
- Papillon-Lefevre disease [MeSH concept]
- Papillon-Lefevre syndrome [MedDRA Preferred Term]
- Papillon-Lefèvre syndrome [ORDO Disease]
- Papillon-Lefèvre syndrome [ICD-11 More detail]
- Papillon-Lefèvre syndrome (disorder) [SNOMED CT concept]
- Papillon-lefevre syndrome [OMIM Phenotype]
- papillon-lefevre disease [MeSH Descriptor]
- papillon-lefevre syndrome [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CTSC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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