1169356004: Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Finding of brain\Encephalopathy\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disorder of head\Encephalopathy\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disease\Genetic disease\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4607745017	Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4607746016	Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4607747013	A rare genetic neurological disorder with characteristics of early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Additional reported manifestations include seizures, optic atrophy, cortical visual impairment, scoliosis, and dysphagia. Brain imaging shows pontine hypoplasia, partial agenesis of the corpus callosum, and diffuse cerebral atrophy with relative sparing of the cerebellum.	en	Definition	Active	Case sensitive	SNOMED CT core

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