OMOP Concept 436803
Fragile X syndrome
StandardConditionSNOMED613003Disorder
Maps from
6
Descendants
1
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
6 source codes normalize to Fragile X syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 139818 | Fragile X syndrome | Non-standard |
| ICD9CM | 759.83 | Fragile X syndrome | Non-standard |
| MeSH | D005600 | Fragile X Syndrome | Non-standard |
| Nebraska Lexicon | 613003 | FRAXA - Fragile X syndrome | Non-standard |
| OXMIS | 315 FX | SYNDROME MARTIN-BELL | Non-standard |
| Read | PJyy400 | Fragile X syndrome | Non-standard |
Synonyms
Alternative names recorded for Fragile X syndrome across source vocabularies.
- Fragile X syndrome (disorder)
- FRAXA (fragile X) syndrome
- Marker X syndrome
- Martin-Bell syndrome
- síndrome de FraX
- síndrome del cromosoma X frágil
- síndrome del cromosoma X frágil (trastorno)
- síndrome de Martin-Bell
- síndrome FRAXA
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(37)Roll up to these when you need a wider cohort.
- 1Developmental hereditary disorder
- 1Fragile X chromosome
- 1Intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 1X-linked dominant hereditary disease
- 2Anomaly of chromosome X
- 2Behavior finding
- 2Congenital anomaly of face
- 2Developmental disorder
- 2Hereditary disease
- 2Impaired cognition
- 2Intellectual ability - finding
- 2Multiple system malformation syndrome
- 2Neurodevelopmental disorder
- 2X-linked hereditary disease
- 3Anomaly of sex chromosome
- 3Cognitive function finding
- 3Congenital anomaly of head
- 3Congenital malformation syndrome
- 3Disease
- 3Disorder of face
- 3Genetic disease
- 3Intelligence finding
- 3Mental state, behavior and/or psychosocial function finding
- 3Sex-linked hereditary disorder
Narrower concepts
(1)Included automatically when you query with descendants.
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