Code System Concept

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Code System Concept

Code System Concept Code	737579002
Code System Concept Name	Congenital coloboma of macula lutea (disorder)
Code System Preferred Concept Name	Congenital coloboma of macula lutea (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

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Superseded By Concept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	01/31/2018
SDO Date Created	01/31/2018
SDO Date Revised	01/31/2018
Description	A rare non-syndromic developmental defect of the eye. The disease has characteristics of well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3528385011	Coloboma of macula	Active	Synonym	false	false
3528386012	Congenital coloboma of macula lutea	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Coloboma of retina (disorder) {204173008 , SNOMED-CT } Congenital anomaly of macula (disorder) {4041005 , SNOMED-CT } Congenital ocular coloboma (disorder) {93390002 , SNOMED-CT } Fundus coloboma (disorder) {39302008 , SNOMED-CT } Retinal defect (disorder) {40024006 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Congenital coloboma of macula lutea (disorder) {737579002 , SNOMED-CT } Parent/Child (Relationship Type) Coloboma of bilateral maculae (disorder) {840456001 , SNOMED-CT } Coloboma of macula with brachydactyly type B syndrome (disorder) {717785002 , SNOMED-CT } Macular coloboma, cleft palate, hallux valgus syndrome (disorder) {722463001 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,