OMOP Concept 36715334
Fountain syndrome
StandardConditionSNOMED720957007Disorder
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 Fountain syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537270 | Fountain syndrome | Non-standard |
| Nebraska Lexicon | 720957007 | Deafness, skeletal dysplasia, coarse face with full lips syndrome | Non-standard |
Synonyms
Alternative names recorded for Fountain syndrome across source vocabularies.
- Deafness, skeletal dysplasia, coarse face with full lips syndrome
- Deafness with skeletal dysplasia and lip granuloma syndrome
- Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)
- síndrome de Fountain
- síndrome de sordera con displasia esquelética y granuloma de labio
- síndrome de sordera con displasia esquelética y granuloma de labio (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(52)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal recessive hereditary disorder
- 1Congenital anomaly of skeletal bone
- 1Congenital sensorineural hearing loss
- 1Developmental hereditary disorder
- 1Hearing loss associated with syndrome
- 1Hereditary disorder of musculoskeletal system
- 1Intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 1Skeletal dysplasia
- 2Autosomal hereditary disorder
- 2Behavior finding
- 2Congenital anomaly of face
- 2Congenital anomaly of musculoskeletal system
- 2Congenital hearing disorder
- 2Developmental disorder
- 2Disorder of auditory system
- 2Disorder of bone development
- 2Disorder of musculoskeletal system
- 2Disorder of skeletal system
- 2Hearing loss
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Impaired cognition
- 2Intellectual ability - finding
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