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770944002: Oculootodental syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Oculootodental syndrome
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Oculootodental syndrome

\Ear, nose and throat finding\Ear finding\Disorder of ear\Oculootodental syndrome
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Oculootodental syndrome

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

\Functional finding\Hearing finding (finding)\Hearing disorder\...

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

\Hearing loss\Hearing loss associated with syndrome\Oculootodental syndrome
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Oculootodental syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Oculootodental syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Oculootodental syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Oculootodental syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\Oculootodental syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Deletion of part of chromosome 11 (disorder)\Oculootodental syndrome
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Oculootodental syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\Oculootodental syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Deletion of part of chromosome 11 (disorder)\Oculootodental syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\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 (disorder)\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)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Oculootodental syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Oculootodental syndrome
\Disease\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Disease\Disorder of head (disorder)\Disorder of ear\Oculootodental syndrome
\Disease\Developmental disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Macrodontia\Globodontia (disorder)\Oculootodental syndrome
\Disease\Developmental disorder\Congenital malformation\Oculootodental syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3703553016 Oculootodental syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3703555011 Oculootodental syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404975012 A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5438060014 A contiguous gene syndrome comprising otodental syndrome (characterised by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculootodental syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculootodental syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Oculootodental syndrome	Is a	Globodontia (disorder)	true	Inferred relationship	Some
Oculootodental syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Oculootodental syndrome	Is a	Congenital sensorineural hearing loss (disorder)	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 (morphologic abnormality)	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 (disorder)	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
Oculootodental syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oculootodental syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oculootodental syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oculootodental syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Oculootodental syndrome	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	4
Oculootodental syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Oculootodental syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Oculootodental syndrome	Finding site	Tooth structure	false	Inferred relationship	Some	6
Oculootodental syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	6
Oculootodental syndrome	Is a	Congenital malformation	true	Inferred relationship	Some
Oculootodental syndrome	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3703553016	Oculootodental syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703555011	Oculootodental syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404975012	A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5438060014	A contiguous gene syndrome comprising otodental syndrome (characterised by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core