238025006: GM1 gangliosidosis (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\GM1 gangliosidosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

356762015 GM1 gangliosidosis en Synonym Active Case sensitive SNOMED CT core
356763013 beta-Galactosidase deficiency en Synonym Inactive Initial character case insensitive SNOMED CT core
356764019 Beta-galactosidase deficiency en Synonym Inactive Initial character case insensitive SNOMED CT core
626846010 GM1 gangliosidosis (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
GM1 gangliosidosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
GM1 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
GM1 gangliosidosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
GM1 gangliosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
GM1 gangliosidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
GM1 gangliosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
GM1 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Some	2
GM1 gangliosidosis	Finding site	Bone structure	false	Inferred relationship	Some	2
GM1 gangliosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
GM1 gangliosidosis	Occurrence	Congenital	false	Inferred relationship	Some
GM1 gangliosidosis	Finding site	Bone structure	true	Inferred relationship	Some	1
GM1 gangliosidosis	Finding site	Structure of nervous system	true	Inferred relationship	Some	2
GM1 gangliosidosis	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
GM1 gangliosidosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
GM1 gangliosidosis	Is a	Dysostosis multiplex group	true	Inferred relationship	Some
GM1 gangliosidosis	Is a	Gangliosidosis	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Juvenile GM1 gangliosidosis	Is a	True	GM1 gangliosidosis	Inferred relationship	Some
Infantile GM1 gangliosidosis	Is a	True	GM1 gangliosidosis	Inferred relationship	Some
Adult GM1 gangliosidosis	Is a	True	GM1 gangliosidosis	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356762015	GM1 gangliosidosis	en	Synonym	Active	Case sensitive	SNOMED CT core
356763013	beta-Galactosidase deficiency	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
356764019	Beta-galactosidase deficiency	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
626846010	GM1 gangliosidosis (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core