58263000: Maroteaux-Lamy syndrome, severe form (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Developmental disorder\Developmental hereditary disorder\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
96831018	Maroteaux-Lamy syndrome, severe form	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
796976010	Maroteaux-Lamy syndrome, severe form (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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