OMOP Concept 36717635
Coloboma of macula with brachydactyly type B syndrome
StandardConditionSNOMED717785002Disorder
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 Coloboma of macula with brachydactyly type B syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535969 | Coloboma of macula type B brachydactyly | Non-standard |
| Nebraska Lexicon | 717785002 | Coloboma of macula with brachydactyly type B syndrome | Non-standard |
Synonyms
Alternative names recorded for Coloboma of macula with brachydactyly type B syndrome across source vocabularies.
- Coloboma of macula with brachydactyly type B syndrome (disorder)
- síndrome de coloboma macular con bradidactilia tipo B
- síndrome de coloboma macular con bradidactilia tipo B (trastorno)
- síndrome de Sorsby
- Sorsby syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(68)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Brachydactyly syndrome type B
- 1Congenital coloboma of macula lutea
- 1Hereditary disorder of the visual system
- 1Multiple malformation syndrome with limb defect as major feature
- 2Acromesomelic dysplasia syndrome
- 2Autosomal hereditary disorder
- 2Autosomal recessive hereditary disorder
- 2Brachydactyly
- 2Coloboma of retina
- 2Congenital anomaly of macula
- 2Developmental hereditary disorder
- 2Hereditary disorder by system
- 2Hereditary disorder of musculoskeletal system
- 2Multiple system malformation syndrome
- 2Visual system disorder
- 3Coloboma of eye
- 3Congenital abnormal shape of digit
- 3Congenital anomaly of retina
- 3Congenital anomaly of skeletal bone
- 3Congenital malformation syndrome
- 3Developmental disorder
- 3Disorder of body system
- 3Disorder of macula of retina
- 3Disorder of musculoskeletal system
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