OMOP Concept 37204211
Severe intellectual disability, progressive spastic diplegia syndrome
StandardConditionSNOMED782723007Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2019
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Severe intellectual disability, progressive spastic diplegia syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| ICD10CM | Q87.88 | CTNNB1 syndrome | Non-standard |
Synonyms
Alternative names recorded for Severe intellectual disability, progressive spastic diplegia syndrome across source vocabularies.
- CTNNB1 syndrome
- Severe intellectual disability, progressive spastic diplegia syndrome (disorder)
- síndrome CTNNB1
- síndrome de discapacidad intelectual severa y diplejía espástica progresiva
- síndrome de discapacidad intelectual severa y diplejía espástica progresiva (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(54)Roll up to these when you need a wider cohort.
- 1Abnormal nervous system function
- 1Genetic intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 1Severe intellectual disability
- 1Spastic diplegia
- 2Congenital anomaly of face
- 2Diplegia
- 2Disorder of skeletal muscle
- 2Functional finding
- 2Genetic disease
- 2Intellectual disability
- 2Multiple system malformation syndrome
- 2Neurological finding
- 2Spastic paralysis
- 3Abnormal behavior
- 3Clinical finding
- 3Congenital anomaly of head
- 3Congenital malformation syndrome
- 3Disease
- 3Disorder of face
- 3Disorder of limb
- 3Disorder of muscle
- 3Disorder of musculoskeletal system
- 3Disorder of soft tissue
- 3Impaired cognition
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