1251447008: NAD(P)HX epimerase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Central nervous system finding\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\NAD(P)HX epimerase deficiency
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Disorder of head\Encephalopathy\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\NAD(P)HX epimerase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\NAD(P)HX epimerase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\NAD(P)HX epimerase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\NAD(P)HX epimerase deficiency
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\NAD(P)HX epimerase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\NAD(P)HX epimerase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\NAD(P)HX epimerase deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\NAD(P)HX epimerase deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\NAD(P)HX epimerase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\NAD(P)HX epimerase deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\NAD(P)HX epimerase deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\NAD(P)HX epimerase deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\NAD(P)HX epimerase deficiency
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\NAD(P)HX epimerase deficiency

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5133493014	Apolipoprotein A-I binding protein deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5133494015	NAD(P)HX epimerase deficiency (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5133495019	NAD(P)HX epimerase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
5133496018	A rare neurometabolic disease characterised by infantile onset of rapidly progressive neurological deterioration typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar oedema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
5133497010	A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported.	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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