7259005: Mucopolysaccharidosis IV-A (disorder)

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

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

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

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 IV-A (disorder)	Is a	Morquio syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis IV-A (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis IV-A (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis IV-A (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mucopolysaccharidosis IV-A (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis IV-A (disorder)	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis IV-A (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mucopolysaccharidosis IV-A (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mucopolysaccharidosis IV-A (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
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	Only initial character case insensitive (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
812884016	Mucopolysaccharidosis, MPS-IV-A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216899018	Galactose-6-sulphatase deficiency	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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	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
3454881001000112	Mukopolysaccharidose Typ 4A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3454881001000112	Mukopolysaccharidose Typ 4A	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module