764810000: Branchiootic syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

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

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

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

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3655174015 Branchio-otic syndrome en Synonym Active Case insensitive SNOMED CT core

3655175019 Branchiootic syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3655176018 Branchiootic syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

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
3655174015	Branchio-otic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3655175019	Branchiootic syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3655176018	Branchiootic syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core