732264002: Coenzyme A synthase protein associated neurodegeneration (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Coenzyme A synthase protein associated neurodegeneration
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Coenzyme A synthase protein associated neurodegeneration
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Coenzyme A synthase protein associated neurodegeneration
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Coenzyme A synthase protein associated neurodegeneration
• \Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload\Coenzyme A synthase protein associated neurodegeneration
• \Malnutrition\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess\Iron overload\Coenzyme A synthase protein associated neurodegeneration

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3465159010	Coenzyme A synthase protein associated neurodegeneration (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3465160017	Coenzyme A synthase protein associated neurodegeneration	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3465161018	COASY protein-associated neurodegeneration	en	Synonym	Active	Case sensitive	SNOMED CT core
3465162013	CoPAN - coenzyme A synthase protein associated neurodegeneration	en	Synonym	Active	Case sensitive	SNOMED CT core
3465163015	Neurodegeneration with brain iron accumulation due to COASY mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3465164014	A very rare slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. The disease is caused by homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.	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

Description inactivation indicator reference set

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