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732959007: 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
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


0 descendants.

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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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