1167372000: X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\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\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome

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

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome

\Hearing loss\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Disorder of head\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4603874017 X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

4603875016 X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Existential restriction modifier
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	3
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier	1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

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
4603874017	X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
4603875016	X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module