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

• SNOMED CT Concept\Clinical finding (finding)\...
• \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
• \Head finding (finding)\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
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Head finding (finding)\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
• \Head finding (finding)\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
• \Head finding (finding)\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
• \Head finding (finding)\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 foetus and/or newborn\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\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\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 (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\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:

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

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

GB English

US English

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