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1237343009: Otodental syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5097801011 Otodental syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097802016 Otodental dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097803014 Otodental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097804015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Otodental syndrome (disorder) Is a Decreased hearing (finding) true Inferred relationship Some
Otodental syndrome (disorder) Is a High frequency sensorineural hearing loss of bilateral ears (disorder) true Inferred relationship Some
Otodental syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Otodental syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Otodental syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Otodental syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Otodental syndrome (disorder) Is a Globodontia (disorder) true Inferred relationship Some
Otodental syndrome (disorder) Finding site Left inner ear structure true Inferred relationship Some 3
Otodental syndrome (disorder) Finding site Right inner ear structure true Inferred relationship Some 4
Otodental syndrome (disorder) Interprets Hearing true Inferred relationship Some 2
Otodental syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 2
Otodental syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 1
Otodental syndrome (disorder) Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 1
Otodental syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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