34566007: Sialic acid storage disease, severe infantile type (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of sialic acid metabolism\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\trouble métabolique\Inborn error of metabolism\Disorder of sialic acid metabolism\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\trouble métabolique\maladie métabolique de l'os\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Congenital disease\Inborn error of metabolism\Disorder of sialic acid metabolism\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\trouble du développement\Developmental hereditary disorder\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type

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
Sialic acid storage disease, severe infantile type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	est un(e) (attribut)	Sialic storage disease	true	Inferred relationship	Some
Sialic acid storage disease, severe infantile type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Sialic acid storage disease, severe infantile type	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Sialic acid storage disease, severe infantile type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Sialic acid storage disease, severe infantile type	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	survenue (attribut)	congénital	false	Inferred relationship	Some
Sialic acid storage disease, severe infantile type	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Sialic acid storage disease, severe infantile type	gravité (attribut)	grave	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
485873019	Infantile sialic acid storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
57684019	Sialic acid storage disease, severe infantile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
57685018	Sialuria, French type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
57686017	Sialuria, infantile type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
766104016	Sialic acid storage disease, severe infantile type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core