732264002: Coenzyme A synthase 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)\Coenzyme A synthase protein associated neurodegeneration (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Coenzyme A synthase protein associated neurodegeneration (disorder)
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Coenzyme A synthase protein associated neurodegeneration (disorder)
• \Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Coenzyme A synthase protein associated neurodegeneration (disorder)
• \Metabolic disease\Disorder of mineral metabolism\Disorder of iron metabolism\Iron overload (disorder)\Coenzyme A synthase protein associated neurodegeneration (disorder)
• \Nutritional disorder\Disorder of hyperalimentation\Excess intake of micronutrients\Mineral excess (disorder)\Iron overload (disorder)\Coenzyme A synthase 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
3465159010	Coenzyme A synthase protein associated neurodegeneration (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465160017	Coenzyme A synthase protein associated neurodegeneration	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465161018	COASY protein-associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3465162013	CoPAN - coenzyme A synthase protein associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3465163015	Neurodegeneration with brain iron accumulation due to COASY mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403633017	COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403634011	COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterised by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3465159010	Coenzyme A synthase protein associated neurodegeneration (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465160017	Coenzyme A synthase protein associated neurodegeneration	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465161018	COASY protein-associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3465162013	CoPAN - coenzyme A synthase protein associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3465163015	Neurodegeneration with brain iron accumulation due to COASY mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403633017	COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403634011	COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterised by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3389921001000117	COASY-Protein-assoziierte Neurodegeneration	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5846241000241119	neurodégénérescence associée à la protéine coenzyme A synthase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5846241000241119	neurodégénérescence associée à la protéine coenzyme A synthase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389921001000117	COASY-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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