Combined deficiency of sialidase AND beta galactosidase 35691006
SNOMED CT code
| SNOMED code | 35691006 |
|---|---|
| name | Combined deficiency of sialidase AND beta galactosidase |
| status | active |
| date introduced | 2002-01-31 |
| fully specified name(s) | Combined deficiency of sialidase AND beta galactosidase (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Nervous system structure 25087005 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dysplasia 25723000 |
| Finding site | Bone structure 272673000 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Macula lutea structure 82859000 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Disorder of lysosomal enzyme 23585005 Oligosaccharidosis 1155842003 Combined deficiency of sialidase AND beta galactosidase 35691006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Combined deficiency of sialidase AND beta galactosidase 35691006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Disorder of lysosomal enzyme 23585005 Dysostosis multiplex group 279081001 Combined deficiency of sialidase AND beta galactosidase 35691006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Globe finding 246915008 Retina finding 399858007 Macula finding 247143009 Macular disorder 312999006 Combined deficiency of sialidase AND beta galactosidase 35691006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Combined deficiency of sialidase AND beta galactosidase 35691006 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Combined deficiency of sialidase AND beta galactosidase 35691006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Combined deficiency of sialidase AND beta galactosidase 35691006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Combined deficiency of sialidase AND beta galactosidase 35691006 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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