238026007: Infantile GM1 gangliosidosis (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\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\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble métabolique\maladie métabolique de l'os\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\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\gangliosidose (trouble)\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\gangliosidose (trouble)\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble du développement\Developmental hereditary disorder\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\GM1 gangliosidosis\Infantile GM1 gangliosidosis
\Disease\trouble du développement\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	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Infantile GM1 gangliosidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Infantile GM1 gangliosidosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Infantile GM1 gangliosidosis	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	2
Infantile GM1 gangliosidosis	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	survenue (attribut)	congénital	false	Inferred relationship	Some
Infantile GM1 gangliosidosis	est un(e) (attribut)	GM1 gangliosidosis	true	Inferred relationship	Some

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
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
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