Application Version: 4.0.6.10
Content Version: 2024.07.12
Release Notes [PDF288KB]
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Code System Concept
Code System Concept Code | 1284851009 |
Code System Concept Name | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder) |
Code System Preferred Concept Name | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss 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Superseded By Concept | |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 | 03/01/2024 |
SDO Date Created | 05/31/2023 |
SDO Date Revised | 05/31/2023 |
Description | A rare primary bone dysplasia with characteristics of microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities and severe joint laxity resulting in multiple joint dislocations. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
5243627010 | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome | Active | Synonym | false | false |
5243629013 | Liberfarb syndrome | Active | Synonym | false | false |
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: