725296006: Mucolipidosis type IV (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Mucolipidosis type IV (disorder)
• \Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Mucolipidosis type IV (disorder)
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mucolipidosis type IV (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucolipidosis type IV (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mucolipidosis type IV (disorder)
• \Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Mucolipidosis type IV (disorder)
• \Disorder of lysosomal enzyme\Mucolipidosis\Mucolipidosis type IV (disorder)
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mucolipidosis type IV (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mucolipidosis type IV (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mucolipidosis type IV (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\Mucolipidosis type IV (disorder)
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucolipidosis\Mucolipidosis type IV (disorder)
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\Mucolipidosis type IV (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
3440990016	Mucolipidosis type IV (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3440991017	Mucolipidosis type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403448015	A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403449011	A rare lysosomal storage disease characterised clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anaemia, and kidney disease and failure, all in the absence of dysmorphic features.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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