7259005: Mucopolysaccharidosis IV-A (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

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
Mucopolysaccharidosis, MPS-IV-A	Is a	Morquio syndrome	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	Finding site	Bone structure	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	Finding site	Skeletal system structure	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	Occurrence	Congenital	false	Inferred relationship	Some	2
Mucopolysaccharidosis, MPS-IV-A	Associated morphology	Dystrophy	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	Finding site	broskvävnad, struktur	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-IV-A	Finding site	Bone structure	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-IV-A	Occurrence	Congenital	true	Inferred relationship	Some	1

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
12984013	Mucopolysaccharidosis, MPS-IV-A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12985014	Morquio's syndrome, classic form	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12986010	N-acetylgalactosamine-6-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12987018	Morquio A syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
502163019	N-acetylgalactosamine-6-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216899018	Galactose-6-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216900011	Galactosamine-6-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218385018	Galactose-6-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218386017	Galactosamine-6-sulfatase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233521019	MPS IV-A-Mucopolysaccharidosis IV-A	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233522014	Mucopolysaccharidosis IV-A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233523016	Morquio syndrome A	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2970921014	Mucopolysaccharidosis IV-A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
844381000052112	mukopolysackaridos typ IV-A, MPS4A	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)