OMOP Concept 36716387
Congenital cataract with deafness and hypogonadism syndrome
StandardConditionSNOMED722378009Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Congenital cataract with deafness and hypogonadism syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C536626 | Schaap Taylor Baraitser syndrome | Non-standard |
Synonyms
Alternative names recorded for Congenital cataract with deafness and hypogonadism syndrome across source vocabularies.
- Congenital cataract with deafness and hypogonadism syndrome (disorder)
- Schaap Taylor Baraitser syndrome
- síndrome de catarata congénita con sordera e hipogonadismo
- síndrome de catarata congénita con sordera e hipogonadismo (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(76)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital cataract
- 1Congenital sensorineural hearing loss
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Hearing loss associated with syndrome
- 1Hereditary disorder of endocrine system
- 1Hereditary disorder of the visual system
- 1Hereditary hearing loss
- 1Hypogonadism
- 1Multiple system malformation syndrome
- 1Reproductive system hereditary disorder
- 2Auditory system hereditary disorder
- 2Autosomal hereditary disorder
- 2Cataract
- 2Congenital anomaly of lens
- 2Congenital hearing disorder
- 2Congenital malformation syndrome
- 2Developmental disorder
- 2Disorder of endocrine gonad
- 2Disorder of endocrine system
- 2Disorder of reproductive system
- 2Genetic disease
- 2Hearing loss
- 2Hereditary disease
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