699316006: Myhre syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Myhre syndrome
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Myhre syndrome
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Myhre syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Myhre syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Myhre syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Myhre syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Myhre syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Myhre syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Myhre syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Myhre syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Myhre syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Myhre syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Myhre syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Myhre syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Myhre syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2983758013	Facial dysmorphism, intellectual deficit, short stature and hearing loss	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983767013	Laryngotracheal stenosis, arthropathy, prognathism and short stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983775019	Myhre syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983781010	Myhre syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

GB English

US English

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