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

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

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
3498449010	BPAN - beta-propeller protein-associated neurodegeneration	en	Synonym	Active	Case sensitive	SNOMED CT core
3498450010	Beta-propeller protein-associated neurodegeneration (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498451014	Beta-propeller protein-associated neurodegeneration	en	Synonym	Active	Case insensitive	SNOMED CT core
3498452019	Neurodegeneration with brain iron accumulation type 5	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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