Code System Concept

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Code System Concept

Code System Concept Code	774212003
Code System Concept Name	Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)
Code System Preferred Concept Name	Microcornea, myopic chorioretinal atrophy, telecanthus 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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare genetic developmental defect of the eye disease with characteristics of childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupil and retinal detachment. There is evidence the disease is caused by homozygous mutation in the ADAMTS18 gene on chromosome 16q23.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3728384013	MMCAT syndrome	Active	Synonym	false	false
3728385014	MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome	Active	Synonym	false	false
3728386010	Microcornea, myopic chorioretinal atrophy, telecanthus syndrome	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)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Chorioretinal atrophy (disorder) {95686007 , SNOMED-CT } Congenital malformation syndrome (disorder) {400038003 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , 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,