Code System Concept

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Code System Concept

Code System Concept Code	1332382002
Code System Concept Name	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
Code System Preferred Concept Name	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness 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Superseded By Concept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	09/01/2024
SDO Date Created	05/01/2024
SDO Date Revised	05/01/2024
Description	A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5353839011	COMMAD (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) syndrome	Active	Synonym	false	false
5353841012	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome	Active	Synonym	false	false
5353842017	COMMAD 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)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Chronic disease of skin (disorder) {128236002 , SNOMED-CT } Chronic metabolic disorder (disorder) {128289001 , SNOMED-CT } Chronic nervous system disorder (disorder) {128283000 , SNOMED-CT } Congenital deafness (disorder) {95828007 , SNOMED-CT } Congenital macrocephaly (disorder) {1145402008 , SNOMED-CT } Congenital sensorineural hearing loss (disorder) {700453005 , SNOMED-CT } Decreased hearing (finding) {103276001 , SNOMED-CT } Hearing loss associated with syndrome (disorder) {232333009 , SNOMED-CT } Hypoplasia of the optic nerve (disorder) {95499004 , SNOMED-CT } Inherited metabolic disorder of nervous system (disorder) {128190004 , SNOMED-CT } Inherited optic neuropathy (disorder) {312942003 , SNOMED-CT } Metabolic bone disease (disorder) {50279003 , SNOMED-CT } Microphthalmos co-occurrent with congenital ocular coloboma (disorder) {715771008 , SNOMED-CT } Multiple system malformation syndrome (disorder) {82354003 , SNOMED-CT } Oculocutaneous albinism (disorder) {63844009 , SNOMED-CT } Osteopetrosis (disorder) {1926006 , 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,