keratosis palmoplantaris with periodontopathia and onychogryposis

Preferred Label : keratosis palmoplantaris with periodontopathia and onychogryposis;

MeSH note : Rare autosomal recessive disorder characterized by congenital PALMOPLANTAR KERATOSIS, flatfoot, onychogryphosis, PERIODONTITIS, ARACHNODACTYLY, and ACROOSTEOLYSIS.;

CISMeF acronym : HMS;

MeSH synonym : cochin jewish disorder; Haim-Munk syndrome;

Détails

Origin ID

C537627;

UMLS CUI

C1855627;

Automatic exact mappings (from CISMeF team)
- Haim Munk syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Haim-Munk syndrome [ORDO Disease]
- Haim-munk syndrome [OMIM Phenotype]
False automatic mappings
- DRESS syndrome [ICD-11 Category]
- Heard Island and McDonald Islands [NCIt concept]
MeSH term(s) associated for indexing
- acro-osteolysis [MeSH Descriptor]
- papillon-lefevre disease [MeSH Descriptor]
ORDO relation(s)
- Haim-Munk syndrome [ORDO Disease]
Record concept(s)
- Keratosis palmoplantaris with periodontopathia and onychogryposis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Haim Munk syndrome (disorder) [SNOMED CT concept]
- Haim-Munk syndrome [ORDO Disease]
- Haim-munk syndrome [OMIM Phenotype]

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

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