OMOP Concept 4283945
Pili torti-deafness syndrome
StandardConditionSNOMED67817003Disorder
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 Pili torti-deafness syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 130200 | Pili Torti-Deafness Syndrome | Non-standard |
| MeSH | C537633 | Bjornstad syndrome | Non-standard |
| Nebraska Lexicon | 67817003 | Pili torti-deafness syndrome | Non-standard |
Synonyms
Alternative names recorded for Pili torti-deafness syndrome across source vocabularies.
- Bjornstad's syndrome
- Pili torti-deafness syndrome (disorder)
- síndrome de Bjornstad
- síndrome de sordera - fimbria torti
- síndrome de sordera - fimbria torti (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(46)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal recessive hereditary disorder
- 1Congenital sensorineural hearing loss
- 1Developmental hereditary disorder
- 1Genetic defect of hair shaft
- 1Hereditary disorder of the integument
- 1Pili torti
- 2Autosomal hereditary disorder
- 2Congenital anomaly of hair
- 2Congenital deformity of soft tissue
- 2Congenital hearing disorder
- 2Developmental disorder
- 2Disorder of auditory system
- 2Disorder of hair shaft
- 2Disorder of integument
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Sensorineural hearing loss
- 3Congenital anomaly of skin
- 3Congenital deformity
- 3Congenital disease
- 3Deformity of tissue
- 3Disease
- 3Disorder of body system
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