Code System Concept

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Code System Concept

Code System Concept Code	1237343009
Code System Concept Name	Otodental syndrome (disorder)
Code System Preferred Concept Name	Otodental 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Superseded By Concept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	03/01/2023
SDO Date Created	09/30/2022
SDO Date Revised	09/30/2022
Description	A very rare inherited condition with characteristics of grossly enlarged canine and molar teeth (globodontia) associated with bilateral sensorineural high-frequency hearing deficit with an age of onset that varies from early childhood to middle age. Variable facial dysmorphism has also been reported. Haploinsufficiency in the fibroblast growth factor 3 (FGF3) gene (11q13) has been reported in patients with otodental syndrome and is thought to cause the phenotype. The condition appears to be inherited in an autosomal dominant manner with complete to variable penetrance and variable expressivity.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5097802016	Otodental dysplasia	Active	Synonym	false	false
5097803014	Otodental 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 } Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Decreased hearing (finding) {103276001 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Globodontia (disorder) {707310009 , SNOMED-CT } Hereditary disorder of tooth (disorder) {1148766007 , SNOMED-CT } High frequency sensorineural hearing loss of bilateral ears (disorder) {1083811000119108 , 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,