Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 1197357008 |
Code System Concept Name | Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder) |
Code System Preferred Concept Name | Colobomatous optic disc, macular atrophy, chorioretinopathy 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Superseded By Concept | |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 | 02/28/2022 |
SDO Date Revised | 02/28/2022 |
Description | A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
4695980014 | Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Atrophy of macula lutea (disorder)
{789220007
, SNOMED-CT
}
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Congenital coloboma of bilateral optic discs (disorder)
{15986111000119101
, SNOMED-CT
}
Developmental hereditary disorder (disorder)
{363070008
, SNOMED-CT
}
Inherited optic neuropathy (disorder)
{312942003
, SNOMED-CT
}
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: