764810000: Branchiootic syndrome (disorder)

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

\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Branchiootic syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Branchiootic syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Branchiootic syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)

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

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)

\Hearing loss\Hearing loss associated with syndrome\Branchiootic syndrome (disorder)
\Hearing loss\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Branchiootic syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Branchiootic syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Branchiootic syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Developmental malformation of branchial arch (disorder)\Branchiootic syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Branchiootic syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Branchiootic syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Branchiootic syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Developmental malformation of branchial arch (disorder)\Branchiootic syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Branchiootic syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Branchiootic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Developmental malformation of branchial arch (disorder)\Branchiootic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Branchiootic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Branchiootic syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3655174015 Branchio-otic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3655175019 Branchiootic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3655176018 Branchiootic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3654750019 A rare genetic multiple congenital anomalies syndrome with characteristics of second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

876031000172113 syndrome branchio-otique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

906811000172114 branchio-otisch syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Branchiootic syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Branchiootic syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Branchiootic syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Branchiootic syndrome (disorder)	Is a	Congenital malformation of ear	false	Inferred relationship	Some
Branchiootic syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Branchiootic syndrome (disorder)	Is a	Developmental malformation of branchial arch (disorder)	true	Inferred relationship	Some
Branchiootic syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Branchiootic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Branchiootic syndrome (disorder)	Finding site	Branchial arch structure	true	Inferred relationship	Some	2
Branchiootic syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	2
Branchiootic syndrome (disorder)	Finding site	Branchial arch structure	false	Inferred relationship	Some	1
Branchiootic syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Branchiootic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Branchiootic syndrome (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	1
Branchiootic syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Branchiootic syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Branchiootic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Branchiootic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Branchiootic syndrome (disorder)	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
Branchiootic syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Branchiootic syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3655174015	Branchio-otic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655175019	Branchiootic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655176018	Branchiootic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654750019	A rare genetic multiple congenital anomalies syndrome with characteristics of second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
876031000172113	syndrome branchio-otique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
906811000172114	branchio-otisch syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)