278991002: Sialic storage disease (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Sialic storage disease
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Sialic storage disease
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis multiplex group\Sialic storage disease
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\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\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Sialic storage disease
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis multiplex group\Sialic storage disease
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Disorder of sialic acid metabolism\Sialic storage disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Sialic storage disease
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Sialic storage disease
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis multiplex group\Sialic storage disease
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Disorder of sialic acid metabolism\Sialic storage disease
\Disease\Fetal and/or neonatal disorder\Congenital disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Sialic storage disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Sialic storage disease
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Sialic storage disease
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis multiplex group\Sialic storage disease
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Sialic storage disease
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis multiplex group\Sialic storage disease
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Disorder of sialic acid metabolism\Sialic storage disease
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Disorder of sialic acid metabolism\Sialic storage disease
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Sialic storage disease
\Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group\Sialic storage disease
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease
\Disease\Developmental disorder\Developmental hereditary disorder\Sialic storage disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis multiplex group\Sialic storage disease
\Disease\Developmental disorder\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

7330631000241110 maladie de surcharge en acide sialique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3383311001000114 Sialinsäure-Speicherkrankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sialic storage disease	Is a	Disorder of sialic acid metabolism	true	Inferred relationship	Some
Sialic storage disease	Is a	Dysostosis multiplex group	true	Inferred relationship	Some
Sialic storage disease	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Sialic storage disease	Occurrence	Congenital	false	Inferred relationship	Some
Sialic storage disease	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Sialic storage disease	Finding site	Bone structure	true	Inferred relationship	Some	1
Sialic storage disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Sialic storage disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Sialic storage disease	Finding site	Bone structure	false	Inferred relationship	Some	1
Sialic storage disease	Occurrence	Congenital	false	Inferred relationship	Some	2
Sialic storage disease	Finding site	Bone structure	false	Inferred relationship	Some	2
Sialic storage disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Sialic storage disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Sialic storage disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Sialic storage disease	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Sialic storage disease	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sialic acid storage disease, severe infantile type	Is a	True	Sialic storage disease	Inferred relationship	Some
Salla disease	Is a	True	Sialic storage disease	Inferred relationship	Some

Reference Sets

GB English

US English

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
7330631000241110	maladie de surcharge en acide sialique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383311001000114	Sialinsäure-Speicherkrankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module