OMOP Concept 44783239
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
StandardConditionSNOMED699298009Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2014
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C536717 | Young Simpson syndrome | Non-standard |
| Nebraska Lexicon | 699298009 | Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type | Non-standard |
Synonyms
Alternative names recorded for Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant across source vocabularies.
- Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type
- Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type
- Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder)
- Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome
- Say-Barber-Biesecker-Young-Simpson syndrome
- Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome
- síndrome de blefarofimosis y discapacidad intelectual, tipo Say-Barber-Biesecker-Young-Simpson
- síndrome de blefarofimosis y discapacidad intelectual, tipo Say-Barber-Biesecker-Young-Simpson (trastorno)
- síndrome de hipotiroidismo, dismorfia, polidactilia postaxial, discapacidad intelectual
- síndrome de Ohdo, variante de Say-Barber-Biesecker-Young-Simpson
- Young-Simpson syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(67)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Blepharophimosis, intellectual disability syndrome
- 1Congenital hypothyroidism
- 1Developmental hereditary disorder
- 1Hereditary disorder of endocrine system
- 1Hereditary disorder of the visual system
- 1Polydactyly
- 2Autosomal hereditary disorder
- 2Congenital anomaly of digit
- 2Congenital blepharophimosis
- 2Congenital deformity of face
- 2Congenital disease
- 2Deformity of eyelid
- 2Developmental disorder
- 2Disorder of endocrine system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hypothyroidism
- 2Intellectual disability
- 2Multiple malformation syndrome with facial defects as major feature
- 2Polymelia
- 2Visual system disorder
- 3Behavior finding
- 3Congenital anomaly of face
- 3Congenital anomaly of limb
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