OMOP Concept 37116413
Thumb stiffness, brachydactyly, intellectual disability syndrome
StandardConditionSNOMED733117001Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Thumb stiffness, brachydactyly, intellectual disability syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537511 | Piussan Lenaerts Mathieu syndrome | Non-standard |
Synonyms
Alternative names recorded for Thumb stiffness, brachydactyly, intellectual disability syndrome across source vocabularies.
- Piussan Lenaerts Mathieu syndrome
- síndrome de rigidez de pulgar, braquidactilia y discapacidad intelectual
- síndrome de rigidez de pulgar, braquidactilia y discapacidad intelectual (trastorno)
- Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
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.
- 1Ankylosis of joint of thumb
- 1Autosomal dominant hereditary disorder
- 1Brachydactyly
- 1Congenital anomaly of joint
- 1Congenital malformation of thumb
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Hereditary disorder of musculoskeletal system
- 1Multiple malformation syndrome with limb defect as major feature
- 2Abnormally short digit
- 2Ankylosis of joint of hand
- 2Arthropathy
- 2Autosomal hereditary disorder
- 2Congenital anomaly of digit
- 2Congenital anomaly of hand
- 2Congenital anomaly of musculoskeletal system
- 2Developmental disorder
- 2Disorder of digit
- 2Disorder of musculoskeletal system
- 2Finding of joint of thumb
- 2Finding of thumb
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Intellectual disability
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