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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\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\Musculoskeletal disorder\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 anomaly\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 anomaly\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 anomaly\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 anomaly\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

485873019 Infantile sialic acid storage disease en Synonym Active Case insensitive SNOMED CT core

57684019 Sialic acid storage disease, severe infantile type en Synonym Active Case insensitive SNOMED CT core

57685018 Sialuria, French type en Synonym Active Initial character case insensitive SNOMED CT core

57686017 Sialuria, infantile type en Synonym Active Case insensitive SNOMED CT core

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

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

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