knuckle pads, deafness and leukonychia syndrome - CISMeF

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CISMeF

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Knuckle pads, deafness and leukonychia syndromeSNOMED Notion

Preferred Label : knuckle pads, deafness and leukonychia syndrome;

Details

Origin ID

D4-41410;

UMLS CUI

C0266004;

Currated CISMeF NLP mapping
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome [ORDO Disease]
- knuckle pads, leuconychia and sensorineural deafness [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature [ORDO Disease]
- Hereditary palmoplantar keratoderma [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
Metaterm(s)
- dermatology [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bart-pumphrey syndrome [OMIM Phenotype]
- Knuckle pads, leuconychia and sensorineural deafness [MeSH concept]
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome [ORDO Disease]
- knuckle pads, leuconychia and sensorineural deafness [MeSH Supplementary Concept]

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19/05/2024

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