732959007: Beta-propeller protein-associated neurodegeneration (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Beta-propeller protein-associated neurodegeneration
• \Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Beta-propeller protein-associated neurodegeneration
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Beta-propeller protein-associated neurodegeneration
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Beta-propeller protein-associated neurodegeneration
• \Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload (disorder)\Beta-propeller protein-associated neurodegeneration
• \Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess (disorder)\Iron overload (disorder)\Beta-propeller protein-associated neurodegeneration

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498448019	Static encephalopathy of childhood with neurodegeneration in adulthood	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498449010	BPAN - beta-propeller protein-associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498450010	Beta-propeller protein-associated neurodegeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498451014	Beta-propeller protein-associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498452019	Neurodegeneration with brain iron accumulation type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403667010	Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403668017	Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterised by early-onset developmental delay and further neurological deterioration in early adulthood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498448019	Static encephalopathy of childhood with neurodegeneration in adulthood	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498449010	BPAN - beta-propeller protein-associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498450010	Beta-propeller protein-associated neurodegeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498451014	Beta-propeller protein-associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498452019	Neurodegeneration with brain iron accumulation type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499927018	A rare form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of early-onset developmental delay and further neurological deterioration in early adulthood. Caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403667010	Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403668017	Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterised by early-onset developmental delay and further neurological deterioration in early adulthood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3419991001000110	Beta-propeller-Protein-assoziierte Neurodegeneration	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
895501000172112	BPAN - beta-propeller protein-associated neurodegeneration	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
901521000172112	neurodégénérescence associée à une protéine bêta-propeller	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
895501000172112	BPAN - beta-propeller protein-associated neurodegeneration	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
901521000172112	neurodégénérescence associée à une protéine bêta-propeller	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419991001000110	Beta-propeller-Protein-assoziierte Neurodegeneration	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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