Pachyonychia Congenita

Preferred Label : Pachyonychia Congenita;

NCIt definition : A rare genetic disorder caused by mutations in the KRT6A, KRT6B, KRT16, and KRT17 genes. It is characterized by hypertrophy and abnormalities in the shape of the fingernails and toe nails.;

Details

Origin ID

C84986;

UMLS CUI

C0265334;

Automatic exact mappings (from CISMeF team)
- Pachyonychia congenita [ICD-11 More detail]
- Pachyonychia congenita [MedDRA Preferred Term]
- Pachyonychia congenita [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Pachyonychia congenita [ORDO Disease]
- Pachyonychia congenita syndrome (disorder) [SNOMED CT concept]
- congenital pachyonychia [Disease (Nov.)]
- pachyonychia congenita [DO Concept]
- pachyonychia congenita [MeSH Descriptor]
- pachyonychia congenita [MeSH concept]
- pachyonychia congenita syndrome [SNOMED Notion]
DO Cross reference
- pachyonychia congenita [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pachyonychia congenita [ORDO Disease]
- Pachyonychia congenita [MedDRA Preferred Term]
- Pachyonychia congenita syndrome (disorder) [SNOMED CT concept]
- congenital pachyonychia [Disease (Nov.)]
- pachyonychia congenita [DO Concept]
- pachyonychia congenita [MeSH concept]
- pachyonychia congenita [MeSH Descriptor]
- pachyonychia congenita syndrome [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- KRT16 Gene [NCIt concept]
- KRT17 Gene [NCIt concept]
- KRT6A Gene [NCIt concept]
- KRT6B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients