26015003: Maroteaux-Lamy syndrome, intermediate 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, intermediate form

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

43581013 Maroteaux-Lamy syndrome, intermediate form en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

756399011 Maroteaux-Lamy syndrome, intermediate form (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

833981000052114 Maroteaux-Lamys syndrom, intermediär form sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maroteaux-Lamy syndrome, intermediate form	Is a	Maroteaux-Lamy syndrome	true	Inferred relationship	Some
Maroteaux-Lamy syndrome, intermediate form	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Maroteaux-Lamy syndrome, intermediate form	Occurrence	Congenital	true	Inferred relationship	Some	1
Maroteaux-Lamy syndrome, intermediate form	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Maroteaux-Lamy syndrome, intermediate form	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Maroteaux-Lamy syndrome, intermediate form	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Maroteaux-Lamy syndrome, intermediate form	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
43581013	Maroteaux-Lamy syndrome, intermediate form	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
756399011	Maroteaux-Lamy syndrome, intermediate form (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
833981000052114	Maroteaux-Lamys syndrom, intermediär form	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)