69463008: Maroteaux-Lamy syndrome (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

\Finding of general physiological development\Disorder of stature\Short stature disorder\Maroteaux-Lamy syndrome

\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
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Maroteaux-Lamy syndrome
\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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Maroteaux-Lamy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maroteaux-Lamy syndrome
\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
\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
\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
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Maroteaux-Lamy syndrome
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Maroteaux-Lamy syndrome
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome
\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
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Maroteaux-Lamy syndrome
\Disease\Congenital disease (disorder)\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome
\Disease\Congenital disease (disorder)\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Maroteaux-Lamy syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Maroteaux-Lamy syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maroteaux-Lamy syndrome	Is a	Mucopolysaccharidosis	true	Inferred relationship	Some
Maroteaux-Lamy syndrome	Is a	Deficiency of N-acetylgalactosamine-4-sulfatase	true	Inferred relationship	Some
Maroteaux-Lamy syndrome	Is a	äkta dvärgväxt	false	Inferred relationship	Some
Maroteaux-Lamy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Maroteaux-Lamy syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Maroteaux-Lamy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Maroteaux-Lamy syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Maroteaux-Lamy syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Maroteaux-Lamy syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Maroteaux-Lamy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Maroteaux-Lamy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Maroteaux-Lamy syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Maroteaux-Lamy syndrome, intermediate form	Is a	True	Maroteaux-Lamy syndrome	Inferred relationship	Some
Maroteaux-Lamy syndrome, severe form	Is a	True	Maroteaux-Lamy syndrome	Inferred relationship	Some
Maroteaux-Lamy syndrome, mild form	Is a	True	Maroteaux-Lamy syndrome	Inferred relationship	Some
Enzyme replacement therapy in Maroteaux-Lamy syndrome (procedure)	Has focus	True	Maroteaux-Lamy syndrome	Inferred relationship	Some	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
115399013	Maroteaux-Lamy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
115400018	Maroteaux-Lamy syndrome, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
115401019	N-acetylgalactosamine-4-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
115402014	Polydystrophic dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
115403016	Mucopolysaccharidosis, MPS-VI	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
115404010	Mucopolysaccharidosis chondroitin sulfate B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
115405011	ARSB deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
115406012	Arylsulfatase B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
115407015	Maroteaux-Lamy disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501281010	Mucopolysaccharidosis type VI	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501282015	MPS VI - Mucopolysaccharidosis VI	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501283013	Mucopolysaccharidosis chondroitin sulphate B	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501284019	N-acetylgalactosamine-4-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501285018	N-Acetylgalactosamine-4-sulphatase deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
501286017	Arylsulphatase B deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501287014	ARSB - Arylsulphatase B deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501288016	ARSB - Arylsulfatase B deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
501289012	N-Acetylgalactosamine-4-sulfatase deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
809411016	Maroteaux-Lamy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
833971000052112	Maroteaux-Lamys syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)