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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile 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\Infantile GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\Musculoskeletal disorder\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\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile 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\Infantile GM1 gangliosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Disorder of body system\Musculoskeletal disorder\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis

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

Descriptions:

Id Description Lang Type Status Case? Module

1495095013 Deficiency of beta-galactosidase isoenzymes A, B AND C en Synonym Active Initial character case insensitive SNOMED CT core
1495096014 Infantile GM>1< gangliosidosis en Synonym Active Initial character case insensitive SNOMED CT core
1495097017 GM>1< gangliosidosis, type 1 en Synonym Active Case sensitive SNOMED CT core
356765018 Infantile gangliosidosis with bony involvement en Synonym Active Case insensitive SNOMED CT core
356766017 Generalised gangliosidosis en Synonym Active Case insensitive SNOMED CT core
356767014 Infantile GM1 gangliosidosis en Synonym Active Initial character case insensitive SNOMED CT core
356768016 Generalized gangliosidosis en Synonym Active Case insensitive SNOMED CT core
626847018 Infantile GM1 gangliosidosis (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile GM1 gangliosidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Associated morphology	Congenital dysplasia	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	Congenital dysplasia	false	Inferred relationship	Some	2
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	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	Is a	GM1 gangliosidosis	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
1495095013	Deficiency of beta-galactosidase isoenzymes A, B AND C	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1495096014	Infantile GM>1< gangliosidosis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1495097017	GM>1< gangliosidosis, type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
356765018	Infantile gangliosidosis with bony involvement	en	Synonym	Active	Case insensitive	SNOMED CT core
356766017	Generalised gangliosidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
356767014	Infantile GM1 gangliosidosis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
356768016	Generalized gangliosidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
626847018	Infantile GM1 gangliosidosis (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core