58263000: Maroteaux-Lamy syndrome, severe form (disorder)

SNOMED CT Concept\Clinical finding\...

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

\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\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\Maroteaux-Lamy syndrome, severe form
\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\Maroteaux-Lamy syndrome, severe form
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome\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\Maroteaux-Lamy syndrome, severe form
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maroteaux-Lamy syndrome\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\Maroteaux-Lamy syndrome, severe form
\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\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\Maroteaux-Lamy syndrome, severe form
\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\Maroteaux-Lamy syndrome, severe form
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome\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\Maroteaux-Lamy syndrome, severe form
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
\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\Maroteaux-Lamy syndrome, severe form
\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\Maroteaux-Lamy syndrome, severe form
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
\Disease\Developmental disorder\Developmental hereditary disorder\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Maroteaux-Lamy syndrome\Maroteaux-Lamy syndrome, severe form

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

796976010 Maroteaux-Lamy syndrome, severe form (disorder) en Fully specified name Active Case sensitive SNOMED CT core

96831018 Maroteaux-Lamy syndrome, severe form en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
796976010	Maroteaux-Lamy syndrome, severe form (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
96831018	Maroteaux-Lamy syndrome, severe form	en	Synonym	Active	Case sensitive	SNOMED CT core