OMOP Concept 36715218
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
StandardConditionSNOMED720749004Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Congenital hereditary endothelial dystrophy and perceptive deafness syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535473 | Corneal dystrophy and perceptive deafness | Non-standard |
| Nebraska Lexicon | 720749004 | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome | Non-standard |
Synonyms
Alternative names recorded for Congenital hereditary endothelial dystrophy and perceptive deafness syndrome across source vocabularies.
- Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)
- Corneal dystrophy and perceptive deafness syndrome
- Corneal dystrophy with progressive deafness
- Harboyan syndrome
- síndrome de distrofia corneal con sordera perceptiva
- síndrome de distrofia endotelial hereditaria congénita y sordera perceptiva
- síndrome de distrofia endotelial hereditaria congénita y sordera perceptiva (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(56)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal recessive hereditary disorder
- 1Congenital corneal dystrophy
- 1Congenital hereditary endothelial dystrophy
- 1Hearing loss associated with syndrome
- 1Sensorineural hearing loss
- 2Anomaly of chromosome pair 20
- 2Autosomal hereditary disorder
- 2Congenital malformation
- 2Congenital structural abnormality of cornea
- 2Corneal dystrophy
- 2Corneal endothelial dystrophy
- 2Developmental hereditary disorder
- 2Disorder of auditory system
- 2Hearing loss
- 2Hereditary corneal dystrophy
- 2Hereditary disorder by system
- 3Anomaly of chromosome pair
- 3Congenital anomaly of anterior segment of eye
- 3Congenital disease
- 3Corneal degeneration
- 3Corneal endothelium finding
- 3Developmental disorder
- 3Disorder of body system
- 3Disorder of cornea
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