OMOP Concept 36714522
DOORS syndrome
StandardConditionSNOMED719800009Disorder
Maps from
4
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
4 source codes normalize to DOORS syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C563052 | Digitorenocerebral Syndrome | Non-standard |
| Nebraska Lexicon | 239047003 | Triphalangeal thumbs with onychodystrophy | Non-standard |
| Nebraska Lexicon | 719800009 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome | Non-standard |
| Read | PKyz800 | DOOR - Deafness, triphalangeal thumbs, onychodystrophy | Non-standard |
Synonyms
Alternative names recorded for DOORS syndrome across source vocabularies.
- Autosomal recessive deafness onychodystrophy syndrome
- Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome
- Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)
- DOOR syndrome
- síndrome de sordera, onicodistrofia, osteodistrofia y discapacidad intelectual
- síndrome de sordera, onicodistrofia, osteodistrofia y discapacidad intelectual (trastorno)
- síndrome DOORS
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(81)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital anomaly of skeletal bone
- 1Congenital osteodystrophy
- 1Deafness with onychodystrophy syndrome
- 1Hereditary disorder of musculoskeletal system
- 1Multiple system malformation syndrome
- 2Auditory system hereditary disorder
- 2Autosomal hereditary disorder
- 2Congenital anomaly of musculoskeletal system
- 2Congenital disease
- 2Congenital malformation syndrome
- 2Congenital sensorineural hearing loss
- 2Decreased hearing
- 2Developmental hereditary disorder
- 2Disorder of bone development
- 2Disorder of musculoskeletal system
- 2Dystrophia unguium
- 2Ectodermal dysplasia with nail defect
- 2Genetic disorder of nail
- 2Hearing loss associated with syndrome
- 2Hereditary disorder by system
- 2Hereditary disorder of the integument
- 2Intellectual disability
- 2Osteodystrophy
- 3Behavior finding
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