Code System Concept

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Code System Concept

Code System Concept Code	720010009
Code System Concept Name	Microphthalmia with brain atrophy syndrome (disorder)
Code System Preferred Concept Name	Microphthalmia with brain atrophy 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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	Syndrome with characteristics of congenital microphthalmia and blindness, progressive spasticity, microcephaly, seizures and profound intellectual deficit. It has been reported in three children from three unrelated families. While imaging at birth is normal, follow-up studies show progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extend into the subcortical region, leaving only small islands of remaining cortical tissue.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3318853011	Microphthalmia with brain atrophy syndrome	Active	Synonym	false	false
3318854017	Syndromic microphthalmia type 10	Active	Synonym	false	false
5308105019	MOBA syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Chronic brain syndrome (disorder) {78689005 , SNOMED-CT } Chronic disease of musculoskeletal system (disorder) {128237006 , SNOMED-CT } Congenital blindness (disorder) {95486002 , SNOMED-CT } Degenerative brain disorder (disorder) {52522001 , SNOMED-CT } Degenerative disorder (disorder) {362975008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of brain (disorder) {81308009 , SNOMED-CT } Disorder of skeletal muscle (disorder) {75047002 , SNOMED-CT } Hereditary degenerative disease of central nervous system (disorder) {106018006 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Microphthalmos (disorder) {61142002 , SNOMED-CT } Seizure disorder (disorder) {128613002 , SNOMED-CT } Severe intellectual disability (disorder) {40700009 , SNOMED-CT } Spasticity (finding) {221360009 , 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,