35691006: Combined deficiency of sialidase AND beta galactosidase (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
\Finding of head region\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase

\Eye / vision finding\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Combined deficiency of sialidase AND beta galactosidase

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Combined deficiency of sialidase AND beta galactosidase
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\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\Combined deficiency of sialidase AND beta galactosidase
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined deficiency of sialidase AND beta galactosidase
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\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\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Congenital disease (disorder)\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
\Disease\Congenital disease (disorder)\Disorder of lysosomal enzyme\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Developmental disorder\Developmental hereditary disorder\Combined deficiency of sialidase AND beta galactosidase
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase

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
Combined deficiency of sialidase AND beta galactosidase	Is a	Sialidosis	false	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	Dysostosis multiplex group	true	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Finding site	Muscle tissue	false	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	Developmental anomaly	false	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Occurrence	Congenital	false	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Finding site	Brain structure	false	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Finding site	Bone structure	false	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Finding site	Skeletal and/or smooth muscle structure (body structure)	false	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Finding site	Bone structure	false	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Occurrence	Congenital	true	Inferred relationship	Some	2
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Combined deficiency of sialidase AND beta galactosidase	Finding site	Bone structure	true	Inferred relationship	Some	2
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Combined deficiency of sialidase AND beta galactosidase	Occurrence	Congenital	true	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Combined deficiency of sialidase AND beta galactosidase	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Combined deficiency of sialidase AND beta galactosidase	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Occurrence	Congenital	true	Inferred relationship	Some	3
Combined deficiency of sialidase AND beta galactosidase	Is a	Oligosaccharidosis (disorder)	true	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Occurrence	Congenital	true	Inferred relationship	Some	4
Combined deficiency of sialidase AND beta galactosidase	Finding site	Face structure	true	Inferred relationship	Some	3
Combined deficiency of sialidase AND beta galactosidase	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Combined deficiency of sialidase AND beta galactosidase	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Combined deficiency of sialidase AND beta galactosidase	Finding site	Macula lutea structure	true	Inferred relationship	Some	4
Combined deficiency of sialidase AND beta galactosidase	Is a	Disorder of macula of retina (disorder)	true	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
59532013	Combined deficiency of sialidase AND beta galactosidase	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
59534014	Neuraminidase deficiency with beta-galactosidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
59535010	Goldberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
59536011	Galactosialidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
486239014	GSL - Galactosialidosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
486240011	Protective protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
486241010	Combined deficiency of neuroaminidase and beta galactosidase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767358014	Combined deficiency of sialidase AND beta galactosidase (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4611851019	A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11327261000172111	déficit combiné en neuraminidase et bêta-galactosidase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11327271000172119	syndrome de Goldberg	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11327281000172116	galactosialidose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4130761000172118	galactosialidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)