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 disorder\Encephalomyelopathy\NAD(P)HX epimerase deficiency
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\NAD(P)HX epimerase deficiency
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disorder\Encephalomyelopathy\NAD(P)HX epimerase deficiency

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder\Encephalomyelopathy\NAD(P)HX epimerase deficiency
\Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy\NAD(P)HX epimerase deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\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 disorder\Encephalomyelopathy\NAD(P)HX epimerase deficiency

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Encephalomyelopathy\NAD(P)HX epimerase deficiency

\Disorder of head\Disorder of brain\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\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\NAD(P)HX epimerase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\NAD(P)HX epimerase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Encephalomyelopathy\NAD(P)HX epimerase deficiency
\Disease\Disorder of body system\Disorder of nervous system\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\Disorder of nervous system\Disorder of the central nervous system\Spinal cord disorder\Encephalomyelopathy\NAD(P)HX epimerase deficiency
\Disease\Disorder of head\Disorder of brain\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 disorder\Encephalomyelopathy\NAD(P)HX epimerase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5133493014 Apolipoprotein A-I binding protein deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

5133494015 NAD(P)HX epimerase deficiency (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

5133495019 NAD(P)HX epimerase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
NAD(P)HX epimerase deficiency	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
NAD(P)HX epimerase deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
NAD(P)HX epimerase deficiency	Is a	Encephalomyelopathy	true	Inferred relationship	Existential restriction modifier
NAD(P)HX epimerase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
NAD(P)HX epimerase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
NAD(P)HX epimerase deficiency	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
NAD(P)HX epimerase deficiency	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
NAD(P)HX epimerase deficiency	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier	2
NAD(P)HX epimerase deficiency	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5133493014	Apolipoprotein A-I binding protein deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5133494015	NAD(P)HX epimerase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
5133495019	NAD(P)HX epimerase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module