1251446004: NAD(P)HX dehydratase deficiency (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5133488011	NAD(P)HX dehydratase deficiency (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5133489015	NAD(P)HX dehydratase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
5133490012	CARKD deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
5133491011	A rare neurometabolic disease with characteristics of infantile onset of repeated episodes of developmental regression and neurodegeneration often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy and pancytopenia have been reported in association. The condition is fatal in the first years of life.	en	Definition	Active	Case sensitive	SNOMED CT core
5133492016	A rare neurometabolic disease with characteristics of infantile onset of repeated episodes of developmental regression and neurodegeneration often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia and hearing loss. Brain imaging shows generalised cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy and pancytopenia have been reported in association. The condition is fatal in the first years of life.	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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