711403001: Cerebral folate transport deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebral folate transport deficiency (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebral folate transport deficiency (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebral folate transport deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebral folate transport deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cerebral folate transport deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cerebral folate transport deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cerebral folate transport deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Cerebral folate transport deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebral folate transport deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebral folate transport deficiency (disorder)
\Disease\Nutritional disorder\Nutritional deficiency disorder\Undernutrition\Deficiency of micronutrients\Vitamin deficiency\Folic acid deficiency\Folic acid deficiency (non anemic)\Cerebral folate transport deficiency (disorder)
\Disease\Nutritional disorder\Vitamin disease\Vitamin deficiency\Folic acid deficiency\Folic acid deficiency (non anemic)\Cerebral folate transport deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3078350019 Cerebral folate transport deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078465019 Cerebral folate transport deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078472018 Neurodegeneration due to cerebral folate transport deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3078513019 Cerebral folate deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebral folate transport deficiency (disorder)	Is a	Folic acid deficiency (non anemic)	true	Inferred relationship	Some
Cerebral folate transport deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cerebral folate transport deficiency (disorder)	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Cerebral folate transport deficiency (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Cerebral folate transport deficiency (disorder)	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets