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

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of sialic acid metabolism\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic 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\Genetic disease\Hereditary disease\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\Hereditary disease\Developmental hereditary disorder\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of sialic acid metabolism\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Metabolic disease\Hereditary metabolic 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\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital 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\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Developmental disorder\Developmental hereditary disorder\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Developmental disorder\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

57684019 Sialic acid storage disease, severe infantile type en Synonym Active Entire term case insensitive SNOMED CT core module

57685018 Sialuria, French type en Synonym Active Only initial character case insensitive SNOMED CT core module

57686017 Sialuria, infantile type en Synonym Active Entire term case insensitive SNOMED CT core module

485873019 Infantile sialic acid storage disease en Synonym Active Entire term case insensitive SNOMED CT core module

766104016 Sialic acid storage disease, severe infantile type (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sialic acid storage disease, severe infantile type	Is a	Sialic storage disease	true	Inferred relationship	Existential restriction modifier
Sialic acid storage disease, severe infantile type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Sialic acid storage disease, severe infantile type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Sialic acid storage disease, severe infantile type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Sialic acid storage disease, severe infantile type	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Sialic acid storage disease, severe infantile type	Severity	Severe	false	Inferred relationship	Existential restriction modifier
Sialic acid storage disease, severe infantile type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Sialic acid storage disease, severe infantile type	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Sialic acid storage disease, severe infantile type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Sialic acid storage disease, severe infantile type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Sialic acid storage disease, severe infantile type	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Sialic acid storage disease, severe infantile type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Sialic acid storage disease, severe infantile type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Sialic acid storage disease, severe infantile type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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