238025006: GM1 gangliosidosis (disorder)

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

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\GM1 gangliosidosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\GM1 gangliosidosis (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\GM1 gangliosidosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\GM1 gangliosidosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\GM1 gangliosidosis (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\GM1 gangliosidosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Metabolic disease\Metabolic bone disease (disorder)\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis (disorder)\GM1 gangliosidosis (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\GM1 gangliosidosis (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis (disorder)

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
GM1 gangliosidosis (disorder)	Is a	Dysostosis multiplex group	true	Inferred relationship	Existential restriction modifier (core metadata concept)
GM1 gangliosidosis (disorder)	Is a	Gangliosidosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
GM1 gangliosidosis (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
GM1 gangliosidosis (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GM1 gangliosidosis (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
GM1 gangliosidosis (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GM1 gangliosidosis (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GM1 gangliosidosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GM1 gangliosidosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GM1 gangliosidosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GM1 gangliosidosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
GM1 gangliosidosis (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
GM1 gangliosidosis (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
GM1 gangliosidosis (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GM1 gangliosidosis (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GM1 gangliosidosis (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
GM1 gangliosidosis (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
GM1 gangliosidosis (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile GM1 gangliosidosis	Is a	True	GM1 gangliosidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Adult GM1 gangliosidosis	Is a	True	GM1 gangliosidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile GM1 gangliosidosis (disorder)	Is a	True	GM1 gangliosidosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356762015	GM1 gangliosidosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626846010	GM1 gangliosidosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356762015	GM1 gangliosidosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356763013	beta-Galactosidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356764019	Beta-galactosidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626846010	GM1 gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626846010	GM1 gangliosidosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3413781001000112	GM1-Gangliosidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
914631000172114	gangliosidose à GM1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
938651000172115	déficit en GLB1 (bêta-galactosidase-1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
914631000172114	gangliosidose à GM1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
938651000172115	déficit en GLB1 (bêta-galactosidase-1)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413781001000112	GM1-Gangliosidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module