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\Neurological 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\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

115399013 Maroteaux-Lamy syndrome en Synonym Active Case sensitive SNOMED CT core
115400018 Maroteaux-Lamy syndrome, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
115401019 N-acetylgalactosamine-4-sulfatase deficiency en Synonym Active Case sensitive SNOMED CT core
115402014 Polydystrophic dwarfism en Synonym Active Case insensitive SNOMED CT core
115403016 Mucopolysaccharidosis, MPS-VI en Synonym Active Initial character case insensitive SNOMED CT core
115404010 Mucopolysaccharidosis chondroitin sulfate B en Synonym Active Initial character case insensitive SNOMED CT core
115405011 ARSB deficiency en Synonym Active Case sensitive SNOMED CT core
115406012 Arylsulfatase B deficiency en Synonym Active Initial character case insensitive SNOMED CT core
115407015 Maroteaux-Lamy disease en Synonym Active Case sensitive SNOMED CT core
501281010 Mucopolysaccharidosis type VI en Synonym Active Initial character case insensitive SNOMED CT core
501282015 MPS VI - Mucopolysaccharidosis VI en Synonym Active Case sensitive SNOMED CT core
501283013 Mucopolysaccharidosis chondroitin sulphate B en Synonym Active Initial character case insensitive SNOMED CT core
501284019 N-acetylgalactosamine-4-sulphatase deficiency en Synonym Active Case sensitive SNOMED CT core
501285018 N-Acetylgalactosamine-4-sulphatase deficiency en Synonym Inactive Case sensitive SNOMED CT core
501286017 Arylsulphatase B deficiency en Synonym Active Initial character case insensitive SNOMED CT core
501287014 ARSB - Arylsulphatase B deficiency en Synonym Active Case sensitive SNOMED CT core
501288016 ARSB - Arylsulfatase B deficiency en Synonym Active Case sensitive SNOMED CT core
501289012 N-Acetylgalactosamine-4-sulfatase deficiency en Synonym Inactive Case sensitive SNOMED CT core
809411016 Maroteaux-Lamy syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maroteaux-Lamy syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Maroteaux-Lamy syndrome	Finding site	Structure of nervous system	true	Inferred relationship	Some	1
Maroteaux-Lamy syndrome	Pathological process	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
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	True dwarfism	false	Inferred relationship	Some
Maroteaux-Lamy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Maroteaux-Lamy syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Maroteaux-Lamy syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Some	2
Maroteaux-Lamy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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