711403001: Cerebral folate transport deficiency (disorder)

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

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebral folate transport deficiency (disorder)	Is a	Folic acid deficiency (non anemic) (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral folate transport deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral folate transport deficiency (disorder)	Is a	Disorder of brain	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral folate transport deficiency (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
3078350019	Cerebral folate transport deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character 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
3424701001000112	Neurodegeneratives Syndrom durch zerebrale Folattransportstörung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5748811000241115	syndrome neurodégénératif dû au déficit du transport cérébral des folates	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5748821000241110	déficience du transport cérébral des folates	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5748811000241115	syndrome neurodégénératif dû au déficit du transport cérébral des folates	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5748821000241110	déficience du transport cérébral des folates	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3424701001000112	Neurodegeneratives Syndrom durch zerebrale Folattransportstörung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module