725296006: Mucolipidosis type IV (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Mucolipidosis type IV
• \Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Mucolipidosis type IV
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mucolipidosis type IV
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucolipidosis type IV
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mucolipidosis type IV
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Mucolipidosis type IV
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Mucolipidosis type IV
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Mucolipidosis type IV
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\Mucolipidosis type IV
• \Congenital disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Mucolipidosis type IV
• \Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\Mucolipidosis type IV

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3440991017	Mucolipidosis type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3440992012	A lysosomal storage disease with clinical characteristics of psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration or strabismus. The disease is rare in the general population but is more prevalent among Ashkenazi Jews. First signs appear during the first year of life or later, but clinical progression is usually slow. In this disease phospholipids, gangliosides and mucopolysaccharides accumulate in lysosomal inclusions, some of which resemble membranous cytoplasmic bodies found in gangliosidoses. The condition seems to be caused by anomalies in the endocytosis of membrane components towards the lysosomes. The causative gene, MCOLN1, is located in the 19p13.3-p13.2 region and encodes mucolipin-1 (MLN1), a membrane protein from the transient receptor potential (TRP) channel family. The disease is transmitted as an autosomal recessive trait.	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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