732959007: neurodegeneratie geassocieerd met bètapropellerproteïne (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Beta-propeller protein-associated neurodegeneration (disorder)

\Sex-linked hereditary disorder\X-linked hereditary disease\Beta-propeller protein-associated neurodegeneration (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Beta-propeller protein-associated neurodegeneration (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Beta-propeller protein-associated neurodegeneration (disorder)

\Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload (disorder)\Beta-propeller protein-associated neurodegeneration (disorder)

\Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload (disorder)\Beta-propeller protein-associated neurodegeneration (disorder)

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

6114011000146119 neurodegeneratie geassocieerd met bètapropellerproteïne nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6114021000146112 neurodegeneratie geassocieerd met bètapropellerproteïne (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6114031000146114 statische encefalopathie in kindertijd met neurodegeneratie in volwassenheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6114041000146118 SENDA nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6114051000146115 BPAN nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6114061000146117 NBIA5 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6114071000146111 neurodegeneratie met ijzerstapeling in hersenen type 5 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6114081000146113 beta-propeller protein-associated neurodegeneration nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Beta-propeller protein-associated neurodegeneration (disorder)	Is a	Iron overload (disorder)	true	Inferred relationship	Some
Beta-propeller protein-associated neurodegeneration (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Beta-propeller protein-associated neurodegeneration (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Beta-propeller protein-associated neurodegeneration (disorder)	Causative agent	Iron AND/OR iron compound	false	Inferred relationship	Some	1
Beta-propeller protein-associated neurodegeneration (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Beta-propeller protein-associated neurodegeneration (disorder)	Causative agent	Iron and/or iron compound	true	Inferred relationship	Some	1
Beta-propeller protein-associated neurodegeneration (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets