238026007: Infantile GM1 gangliosidosis (disorder)

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

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
Infantile GM1 gangliosidosis	Is a	GM1 gangliosidosis	true	Inferred relationship	Some
Infantile GM1 gangliosidosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Infantile GM1 gangliosidosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Occurrence	Congenital	false	Inferred relationship	Some
Infantile GM1 gangliosidosis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Infantile GM1 gangliosidosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Infantile GM1 gangliosidosis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Infantile GM1 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	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
356765018	Infantile gangliosidosis with bony involvement	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356766017	Generalised gangliosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356767014	Infantile GM1 gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356768016	Generalized gangliosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626847018	Infantile GM1 gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1495095013	Deficiency of beta-galactosidase isoenzymes A, B AND C	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1495096014	Infantile GM>1< gangliosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1495097017	GM>1< gangliosidosis, type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
833661000052112	infantil GM1-gangliosidos	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)