Code System Concept

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Code System Concept

Code System Concept Code	1179296003
Code System Concept Name	Colobomatous macrophthalmia with microcornea syndrome (disorder)
Code System Preferred Concept Name	Colobomatous macrophthalmia with microcornea syndrome (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Superseded By Concept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	09/01/2022
SDO Date Created	10/31/2021
SDO Date Revised	10/31/2021
Description	A rare genetic eye disease with characteristics of microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement or variable extent of coloboma among other features.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4650608014	Colobomatous macrophthalmia with microcornea syndrome	Active	Synonym	false	false
4650917012	MACOM (macrophthalmia colobomatous with microcornea) syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Congenital coloboma of iris (disorder) {51485001 , SNOMED-CT } Congenital coloboma of optic disc (disorder) {44295002 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Inherited optic neuropathy (disorder) {312942003 , SNOMED-CT } Macrophthalmos (disorder) {93181004 , SNOMED-CT } Microcornea (disorder) {26098002 , 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:
- Centers for Disease Control and Prevention,