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1237343009: Otodental syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Otodental syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Otodental syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Otodental syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Otodental syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Otodental syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Otodental syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Otodental syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\High frequency deafness\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss, bilateral\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of right ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of left ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of inner ear\High frequency deafness\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of right ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of left ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of inner ear\High frequency deafness\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\High frequency deafness\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss, bilateral\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Otodental syndrome

\Functional finding\Decline in functional status\Decreased hearing\Otodental syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\High frequency deafness\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss, bilateral\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Functional finding\Hearing finding\Decreased hearing\Otodental syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Otodental syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Otodental syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Otodental syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Otodental syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Otodental syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Otodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Otodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\High frequency deafness\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensorineural hearing loss, bilateral\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of right ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of left ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of inner ear\High frequency deafness\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Otodental syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Otodental syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Otodental syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of right ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of left ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\High frequency deafness\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Otodental syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Otodental syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of right ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of left ear\Bilateral disorder of ears\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of inner ear\High frequency deafness\Bilateral high frequency sensorineural hearing loss of ears\Otodental syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Otodental syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Otodental syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

5097802016 Otodental dysplasia en Synonym Active Case insensitive SNOMED CT core

5097803014 Otodental syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5097801011	Otodental syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5097802016	Otodental dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
5097803014	Otodental syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core