XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007
SNOMED CT code
| SNOMED code | 773418007 |
|---|---|
| name | XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Xylosyltransferase 1 congenital disorder of glycosylation (disorder) |
| synonyms |
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| attributes - group1 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Face structure 89545001 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of glycoprotein metabolism 238045003 Carbohydrate-deficient glycoprotein syndrome 238049009 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007 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 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 773418007 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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