58263000: ernstige vorm van mucopolysacharidose type 6 (aandoening)

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 (disorder)\Maroteaux-Lamy syndrome, severe form

\Finding of general physiological development\Disorder of stature\Short stature disorder\Maroteaux-Lamy syndrome (disorder)\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 (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Maroteaux-Lamy syndrome (disorder)\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 (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Maroteaux-Lamy syndrome (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maroteaux-Lamy syndrome (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Maroteaux-Lamy syndrome (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Disorder of foetus and/or newborn\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 (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Maroteaux-Lamy syndrome (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase\Maroteaux-Lamy syndrome (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome (disorder)\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 (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Maroteaux-Lamy syndrome (disorder)\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 (disorder)\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 (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Maroteaux-Lamy syndrome (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Maroteaux-Lamy syndrome (disorder)\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 (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Developmental disorder\Developmental hereditary disorder\Maroteaux-Lamy syndrome (disorder)\Maroteaux-Lamy syndrome, severe form
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Maroteaux-Lamy syndrome (disorder)\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:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
6455871000146111	ernstige vorm van syndroom van Maroteaux-Lamy	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6714641000146116	ernstige vorm van mucopolysacharidose type 6 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6714651000146118	ernstige vorm van mucopolysacharidose type 6	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13297231000146119	ernstige vorm van N-acetylgalactosamine-4-sulfatasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)