OMOP Concept 36713437
Choroideremia with deafness and obesity syndrome
StandardConditionSNOMED717761005Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Choroideremia with deafness and obesity syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537793 | Ayazi syndrome | Non-standard |
| Nebraska Lexicon | 715417002 | Choroideraemia co-occurrent with hypopituitarism | Non-standard |
| Nebraska Lexicon | 717761005 | Choroideraemia with deafness and obesity syndrome | Non-standard |
Synonyms
Alternative names recorded for Choroideremia with deafness and obesity syndrome across source vocabularies.
- Ayazi syndrome
- Choroideraemia with deafness and obesity syndrome
- Choroideremia with deafness and obesity syndrome (disorder)
- síndrome de Ayazi
- síndrome de coroideremia con sordera y obesidad
- síndrome de coroideremia con sordera y obesidad (trastorno)
- síndrome de microdeleción Xq21
- Xq21 microdeletion syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(66)Roll up to these when you need a wider cohort.
- 1Anomaly of chromosome X
- 1Choroideremia
- 1Congenital mixed conductive and sensorineural hearing loss
- 1Developmental hereditary disorder
- 1Hearing loss associated with syndrome
- 1Multiple system malformation syndrome
- 1Obesity
- 1X-linked sensorineural hearing loss
- 2Anomaly of sex chromosome
- 2Auditory system hereditary disorder
- 2Congenital malformation syndrome
- 2Congenital sensorineural hearing loss
- 2Developmental disorder
- 2Disease
- 2Hearing loss
- 2Hereditary choroidal dystrophy
- 2Hereditary disease
- 2Mixed conductive AND sensorineural hearing loss
- 2Obese
- 2Sensorineural hearing loss
- 2X-linked hereditary disease
- 2X-linked recessive hereditary disease
- 3Anomaly of chromosome pair
- 3Choroidal degeneration
- 3Choroidal dystrophy
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