770944002: Oculootodental 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\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental 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\Oculootodental 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\Oculootodental syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome

\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Oculootodental syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Oculootodental syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Oculootodental syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Oculootodental syndrome

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Oculootodental syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Oculootodental syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Oculootodental syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Oculootodental syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Oculootodental syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Oculootodental syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Oculootodental syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Oculootodental syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss\Oculootodental syndrome

\Hearing loss\Hearing loss associated with syndrome\Oculootodental syndrome
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Oculootodental syndrome

\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11\Oculootodental syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Deletion of part of chromosome 11\Oculootodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Oculootodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Oculootodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Oculootodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Oculootodental 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\Oculootodental syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Oculootodental 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\Oculootodental 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\Oculootodental syndrome
\Disease\Disorder of head\Disorder of ear\Oculootodental syndrome
\Disease\Congenital disease\Congenital anomaly\Oculootodental syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Oculootodental syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11\Oculootodental syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Deletion of part of chromosome 11\Oculootodental syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Macrodontia\Globodontia\Oculootodental syndrome
\Disease\Developmental disorder\Congenital anomaly\Oculootodental syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3703553016 Oculootodental syndrome en Synonym Active Case insensitive SNOMED CT core

3703555011 Oculootodental syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3703554010 A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculootodental syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Oculootodental syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Oculootodental syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Oculootodental syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Oculootodental syndrome	Associated morphology	Enlargement	true	Inferred relationship	Some	4
Oculootodental syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Oculootodental syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Oculootodental syndrome	Finding site	Tooth structure	false	Inferred relationship	Some	6
Oculootodental syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	6
Oculootodental syndrome	Is a	Congenital anomaly	true	Inferred relationship	Some
Oculootodental syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculootodental syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	1
Oculootodental syndrome	Is a	Globodontia	true	Inferred relationship	Some
Oculootodental syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Oculootodental syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Oculootodental syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Some	1
Oculootodental syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Oculootodental syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Oculootodental syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Oculootodental syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	2
Oculootodental syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculootodental syndrome	Interprets	Hearing	true	Inferred relationship	Some	5
Oculootodental syndrome	Is a	Deletion of part of chromosome 11	true	Inferred relationship	Some
Oculootodental syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	4
Oculootodental syndrome	Finding site	Ear structure	true	Inferred relationship	Some	3
Oculootodental syndrome	Finding site	Tooth structure	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3703553016	Oculootodental syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3703555011	Oculootodental syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3703554010	A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	en	Definition	Active	Case sensitive	SNOMED CT core