Code System Concept

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Code System Concept

Code System Concept Code	1010685005
Code System Concept Name	Oculo-auriculo-vertebral spectrum (disorder)
Code System Preferred Concept Name	Oculo-auriculo-vertebral spectrum (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Superseded By Concept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	01/31/2021
SDO Date Revised	01/31/2021
Description	A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The etiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been 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
4213511010	Oculo-auriculo-vertebral spectrum	Active	Synonym	false	false
4213512015	Oculoauriculovertebral spectrum	Active	Synonym	false	false
4213514019	OAV (oculo-auriculo-vertebral) spectrum	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)

Congenital anomaly of spine (disorder) {74877002 , SNOMED-CT } Disorder of vertebral column (disorder) {699699005 , SNOMED-CT } Dysostosis of bone of skull (disorder) {128219005 , SNOMED-CT } Hemifacial microsomia (disorder) {254025006 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , 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,