34566007: infantiele vrij-siaalzuurstapelingsziekte (aandoening)

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\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\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\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\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)\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\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\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\Storage disease\Lysosomal storage disease (disorder)\Disorder of sialic acid metabolism\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of foetus and/or newborn\Congenital disease (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
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Disorder of sialic acid metabolism\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\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\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\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)\Disorder of bone development (disorder)\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 (disorder)\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\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\Storage disease\Lysosomal storage disease (disorder)\Disorder of sialic acid metabolism\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Disorder of sialic acid metabolism\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\Developmental 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\Developmental disorder\Developmental hereditary disorder\Sialic storage disease\Sialic acid storage disease, severe infantile type
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\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\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 (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	Is a	Sialic storage disease	true	Inferred relationship	Some
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
Sialic acid storage disease, severe infantile type	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
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	congenitale dysplasie (afwijkende morfologie)	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	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
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	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
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
485873019	Infantile sialic acid storage disease	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
2621911000146112	infantiele vrij-siaalzuurstapelingsziekte (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2621921000146119	infantiele vrij-siaalzuurstapelingsziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2621931000146117	ISSD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)