278991002: Sialic storage disease (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
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\Sialic storage disease
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease
\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
\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
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease

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

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

Descriptions:

Id Description Lang Type Status Case? Module

416079015 Sialic storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

672218018 Sialic storage disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sialic storage disease	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Sialic storage disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Sialic storage disease	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Sialic storage disease	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Sialic storage disease	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Sialic storage disease	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Sialic storage disease	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Sialic storage disease	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Sialic storage disease	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Sialic storage disease	survenue (attribut)	congénital	false	Inferred relationship	Some
Sialic storage disease	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Sialic storage disease	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Sialic storage disease	est un(e) (attribut)	Disorder of sialic acid metabolism	true	Inferred relationship	Some
Sialic storage disease	est un(e) (attribut)	Dysostosis multiplex group	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sialic acid storage disease, severe infantile type	est un(e) (attribut)	True	Sialic storage disease	Inferred relationship	Some
Salla disease	est un(e) (attribut)	True	Sialic storage disease	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
416079015	Sialic storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
672218018	Sialic storage disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core