7259005: Mucopolysaccharidosis IV-A (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\trouble métabolique\maladie métabolique de l'os\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\Congenital disease\Congenital osteodystrophy\Morquio syndrome\Mucopolysaccharidosis, MPS-IV-A
\Disease\Congenital disease\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	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-IV-A	est un(e) (attribut)	Morquio syndrome	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-IV-A	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-IV-A	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Mucopolysaccharidosis, MPS-IV-A	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	localisation d'une constatation (attribut)	Cartilaginous tissue structure	false	Inferred relationship	Some

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
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
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
2970921014	Mucopolysaccharidosis IV-A (disorder)	en	Fully specified name	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