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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\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)\trouble rétinien (trouble)\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\constatation à propos d'un globe oculaire\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \affection de la tête\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
• \affection de la tête\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
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Combined deficiency of sialidase AND beta galactosidase
• \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\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \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\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \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\Combined deficiency of sialidase AND beta galactosidase
• \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\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\affection de la tête\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\affection de la tête\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\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble métabolique\maladie métabolique de l'os\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\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\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\Congenital disease\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\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\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 (disorder)\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\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble du développement\Developmental hereditary disorder\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Combined deficiency of sialidase AND beta galactosidase
• \Disease\trouble du développement\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
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
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
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

Canada English language reference set (foundation metadata concept)

GB English

US English

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