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

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Finding of head region\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Eye / vision finding\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\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\Disorder of lysosomal enzyme\Oligosaccharidosis\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\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\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\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\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \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\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of body system\Musculoskeletal disorder\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 of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\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\Glycoprotein metabolism disorder\Oligosaccharidosis\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\Disorder of lysosomal enzyme\Oligosaccharidosis\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\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\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Developmental disorder\Developmental hereditary disorder\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
486239014	GSL - Galactosialidosis	en	Synonym	Active	Case sensitive	SNOMED CT core
486240011	Protective protein deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
486241010	Combined deficiency of neuroaminidase and beta galactosidase	en	Synonym	Active	Case insensitive	SNOMED CT core
59532013	Combined deficiency of sialidase AND beta galactosidase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
59534014	Neuraminidase deficiency with beta-galactosidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
59535010	Goldberg syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
59536011	Galactosialidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
767358014	Combined deficiency of sialidase AND beta galactosidase (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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