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
6455861000146117	ernstige vorm van N-acetyl-galactosamine-4-sulfatasedeficiëntie	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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)