Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 1255268002 |
Code System Concept Name | Oculocerebrodental syndrome (disorder) |
Code System Preferred Concept Name | Oculocerebrodental 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Superseded By Concept | |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 | 03/01/2023 |
SDO Date Created | 10/31/2022 |
SDO Date Revised | 10/31/2022 |
Description | A rare ciliopathy with characteristics of congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges and retrognathia) and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
5145775012 | Oculocerebrodental syndrome | Active | Synonym | false | false |
5145777016 | Oculo-cerebro-dental syndrome | Active | Synonym | false | false |
Associated Value Sets
Value Set Name | Version(s) | |
---|---|---|
Clinical Finding (NNDSS) | 1 |
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
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