Application Version: 4.0.6.10
Content Version: 2024.07.12
Release Notes [PDF288KB]
User Guide [PDF6.08MB]
Code System Update Calendar
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
- PHINVADS FHIR API
Downloads
- RCMT Quick Search
Code System Concept
Code System Concept Code | 1187210007 |
Code System Concept Name | Intellectual disability, epilepsy, extrapyramidal syndrome (disorder) |
Code System Preferred Concept Name | Intellectual disability, epilepsy, extrapyramidal syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 09/01/2022 |
SDO Date Created | 11/30/2021 |
SDO Date Revised | 11/30/2021 |
Description | A rare genetic neurological disorder with characteristics of hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
4672728014 | Intellectual disability, epilepsy, extrapyramidal syndrome | Active | Synonym | false | false |
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: