knuckle pads, leuconychia and sensorineural deafness

Preferred Label : knuckle pads, leuconychia and sensorineural deafness;

MeSH synonym : knuckle pads, leukonychia, deafness, and keratosis palmoplantaris; bart pumphrey syndrome; Bart-Pumphrey syndrome; knuckle pads, leukonychia, and sensorineural deafness;

Détails

Origin ID

C537210;

UMLS CUI

C0266004;

Automatic exact mappings (from CISMeF team)
- Bart-Pumphrey syndrome [DO Concept]
- Knuckle pads – leukonychia – sensorineural deafness [ICD-11 More detail]
Currated CISMeF NLP mapping
- Bart-pumphrey syndrome [OMIM Phenotype]
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome [ORDO Disease]
- knuckle pads, deafness and leukonychia syndrome [SNOMED Notion]
Has phenotype(s) (HPO)
- Deafness [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- keratoderma, palmoplantar [MeSH Descriptor]
Record concept(s)
- Knuckle pads, leuconychia and sensorineural deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bart-pumphrey syndrome [OMIM Phenotype]
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome [ORDO Disease]
- knuckle pads, deafness and leukonychia syndrome [SNOMED Notion]

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