69463008: Maroteaux-Lamy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\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\Disorder of lysosomal enzyme\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\Disorder of lysosomal enzyme\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\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\Disorder of lysosomal enzyme\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\Disorder of lysosomal enzyme\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\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\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

115399013 Maroteaux-Lamy syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

115401019 N-acetylgalactosamine-4-sulfatase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

115402014 Polydystrophic dwarfism en Synonym Active Entire term case insensitive SNOMED CT core module

115403016 Mucopolysaccharidosis, MPS-VI en Synonym Active Only initial character case insensitive SNOMED CT core module

115404010 Mucopolysaccharidosis chondroitin sulfate B en Synonym Active Only initial character case insensitive SNOMED CT core module

115405011 ARSB deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

115406012 Arylsulfatase B deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

115407015 Maroteaux-Lamy disease en Synonym Active Entire term case sensitive SNOMED CT core module

501281010 Mucopolysaccharidosis type VI en Synonym Active Only initial character case insensitive SNOMED CT core module

501282015 MPS VI - Mucopolysaccharidosis VI en Synonym Active Entire term case sensitive SNOMED CT core module

501283013 Mucopolysaccharidosis chondroitin sulphate B en Synonym Active Only initial character case insensitive SNOMED CT core module

501284019 N-acetylgalactosamine-4-sulphatase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

501286017 Arylsulphatase B deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

501287014 ARSB - Arylsulphatase B deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

501288016 ARSB - Arylsulfatase B deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

809411016 Maroteaux-Lamy syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Maroteaux-Lamy syndrome, intermediate form	Is a	True	Maroteaux-Lamy syndrome	Inferred relationship	Existential restriction modifier
Maroteaux-Lamy syndrome, severe form	Is a	True	Maroteaux-Lamy syndrome	Inferred relationship	Existential restriction modifier
Maroteaux-Lamy syndrome, mild form	Is a	True	Maroteaux-Lamy syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

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