238026007: Infantile 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\Infantile GM1 gangliosidosis
\Musculoskeletal finding\Bone finding\Disorder of bone\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\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\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\Metabolic bone disease\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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 metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM1 gangliosidosis\Infantile 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\Infantile GM1 gangliosidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\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\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\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\Congenital 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 of bone development\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\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\Congenital 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\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Metabolic disease\Hereditary 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\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Developmental disorder\Disorder of bone development\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\Congenital 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

356765018 Infantile gangliosidosis with bony involvement en Synonym Active Entire term case insensitive SNOMED CT core module

356766017 Generalised gangliosidosis en Synonym Active Entire term case insensitive SNOMED CT core module

356767014 Infantile GM1 gangliosidosis en Synonym Active Only initial character case insensitive SNOMED CT core module

356768016 Generalized gangliosidosis en Synonym Active Entire term case insensitive SNOMED CT core module

626847018 Infantile GM1 gangliosidosis (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1495095013 Deficiency of beta-galactosidase isoenzymes A, B AND C en Synonym Active Only initial character case insensitive SNOMED CT core module

1495096014 Infantile GM>1< gangliosidosis en Synonym Active Only initial character case insensitive SNOMED CT core module

1495097017 GM>1< gangliosidosis, type 1 en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile GM1 gangliosidosis	Is a	GM1 gangliosidosis	true	Inferred relationship	Existential restriction modifier
Infantile GM1 gangliosidosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Infantile GM1 gangliosidosis	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Infantile GM1 gangliosidosis	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	2
Infantile GM1 gangliosidosis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Infantile GM1 gangliosidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Infantile GM1 gangliosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Infantile GM1 gangliosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Infantile GM1 gangliosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Infantile GM1 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Infantile GM1 gangliosidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Infantile GM1 gangliosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Infantile GM1 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Infantile GM1 gangliosidosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356765018	Infantile gangliosidosis with bony involvement	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
356766017	Generalised gangliosidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
356767014	Infantile GM1 gangliosidosis	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
356768016	Generalized gangliosidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
626847018	Infantile GM1 gangliosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1495095013	Deficiency of beta-galactosidase isoenzymes A, B AND C	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1495096014	Infantile GM>1< gangliosidosis	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
1495097017	GM>1< gangliosidosis, type 1	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module