OMOP Concept 4133465
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome
StandardConditionSNOMED1271009Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 136234 | Knuckle Pads, Deafness and Leukonychia Syndrome | Non-standard |
| MeSH | C537210 | Knuckle pads, leuconychia and sensorineural deafness | Non-standard |
| Nebraska Lexicon | 1271009 | Knuckle pads, leuconychia and deafness | Non-standard |
Synonyms
Alternative names recorded for Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome across source vocabularies.
- Bart-Pumphrey syndrome
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)
- síndrome de almohadillas en los nudillos, leuconiquia, sordera neurosensorial e hiperqueratosis palmoplantar
- síndrome de almohadillas en los nudillos, leuconiquia, sordera neurosensorial e hiperqueratosis palmoplantar (trastorno)
- síndrome de Bart Pumphrey
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(91)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal dominant hereditary disorder
- 1Congenital leukonychia
- 1Congenital sensorineural hearing loss
- 1Developmental hereditary disorder
- 1Genetic disorder of nail
- 1Hearing loss associated with syndrome
- 1Hereditary diffuse palmoplantar keratoderma
- 1Inherited disorder of keratinization
- 1Knuckle pads
- 1Rough skin of hands
- 2Autosomal hereditary disorder
- 2Congenital anomaly of nail
- 2Congenital hearing disorder
- 2Developmental disorder
- 2Disorder of auditory system
- 2Disorder of digit
- 2Disorder of hand
- 2Disorder of keratinization
- 2Disorder of nail
- 2Disorder of skin of upper limb
- 2Finding of digit of hand
- 2Finding of hand region
- 2Genetic disease
- 2Hearing loss
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