papillon-lefevre disease

Preferred Label : papillon-lefevre disease;

MeSH definition : Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.;

MeSH synonym : papillon-lefevre syndrome; Keratosis Palmoplantaris with Periodontopathia; Keratosis Palmoplantar Periodontopathy; Keratosis Palmoplantar Periodontopathies; Palmoplantar Periodontopathies, Keratosis; papillon lefevre syndrome; papillon lefevre disease;

CISMeF synonym : Papillon-Lefèvre; disease, papillon-lefevre; syndrome, papillon-lefevre; papillon-lefevre's disease;

Related MeSH term : Haim-Monk syndrome; Haim Monk Syndrome;

Details

Origin ID

D010214;

UMLS CUI

C0030360;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Papillon-Lefevre syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Papillon-Lefevre Syndrome [NCIt concept]
- Papillon-Lefevre disease [DO Concept]
- Papillon-Lefevre disease [Disease (Nov.)]
- 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 syndrome [SNOMED Notion]
DO Cross reference
- Papillon-Lefevre disease [DO Concept]
Manual NTBT mappings (CISMeF)
- Autosomal recessive isolated diffuse palmoplantar keratoderma [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Functional neutrophil defect [ORDO Disease]
- Genetic malformation syndrome with odontal and/or periodontal component [ORDO Disease]
- Hereditary palmoplantar keratoderma [ORDO Disease]
- Malformation syndrome with odontal and/or periodontal component [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
ORDO relation(s)
- Papillon-Lefèvre syndrome [ORDO Disease]
Record concept(s)
- Haim-Monk syndrome [MeSH concept]
- Papillon-Lefevre disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- keratoderma palmoplantaris transgrediens [MeSH Supplementary Concept]
- keratosis palmoplantaris with periodontopathia and onychogryposis [MeSH Supplementary Concept]
See also
- cathepsin C [MeSH Descriptor]
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 [Disease (Nov.)]
- 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 syndrome [SNOMED Notion]

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