1208339007: Neuhauser Eichner Opitz syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Neuhauser Eichner Opitz syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Neuhauser Eichner Opitz syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neuhauser Eichner Opitz syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Neuhauser Eichner Opitz syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Neuhauser Eichner Opitz syndrome
• \Disease\Recurrent disease\Neuhauser Eichner Opitz syndrome

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4963724019	Neuhauser Eichner Opitz syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4963726017	Neuhauser Eichner Opitz syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4964411012	Recurrent encephalopathy of childhood	en	Synonym	Active	Case insensitive	SNOMED CT core
4963727014	A rare genetic neurological disorder with characteristics of infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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