7259005: Mucopolysaccharidosis IV-A (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis IV-A
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Morquio syndrome\Mucopolysaccharidosis IV-A
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Morquio syndrome\Mucopolysaccharidosis IV-A
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis IV-A
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis IV-A
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Morquio syndrome\Mucopolysaccharidosis IV-A

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Metabolic disease\Metabolic bone disease\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Congenital disease\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis IV-A
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome\Mucopolysaccharidosis IV-A

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

12984013 Mucopolysaccharidosis, MPS-IV-A en Synonym Active Only initial character case insensitive SNOMED CT core module

12985014 Morquio's syndrome, classic form en Synonym Active Entire term case sensitive SNOMED CT core module

12986010 N-acetylgalactosamine-6-sulfatase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

12987018 Morquio A syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

502163019 N-acetylgalactosamine-6-sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

1216899018 Galactose-6-sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

1216900011 Galactosamine-6-sulphatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

1218385018 Galactose-6-sulfatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

1218386017 Galactosamine-6-sulfatase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

1233521019 MPS IV-A-Mucopolysaccharidosis IV-A en Synonym Active Entire term case sensitive SNOMED CT core module

1233522014 Mucopolysaccharidosis IV-A en Synonym Active Only initial character case insensitive SNOMED CT core module

1233523016 Morquio syndrome A en Synonym Active Entire term case sensitive SNOMED CT core module

2970921014 Mucopolysaccharidosis IV-A (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis IV-A	Is a	Morquio syndrome	true	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis IV-A	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis IV-A	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis IV-A	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Mucopolysaccharidosis IV-A	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis IV-A	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier
Mucopolysaccharidosis IV-A	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Mucopolysaccharidosis IV-A	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Mucopolysaccharidosis IV-A	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
12984013	Mucopolysaccharidosis, MPS-IV-A	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
12985014	Morquio's syndrome, classic form	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
12986010	N-acetylgalactosamine-6-sulfatase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
12987018	Morquio A syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
502163019	N-acetylgalactosamine-6-sulphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1216899018	Galactose-6-sulphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1216900011	Galactosamine-6-sulphatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1218385018	Galactose-6-sulfatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1218386017	Galactosamine-6-sulfatase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1233521019	MPS IV-A-Mucopolysaccharidosis IV-A	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1233522014	Mucopolysaccharidosis IV-A	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1233523016	Morquio syndrome A	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2970921014	Mucopolysaccharidosis IV-A (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module