Williams syndrome 63247009
SNOMED CT code
| SNOMED code | 63247009 | ||
|---|---|---|---|
| name | Williams syndrome | ||
| status | active | ||
| date introduced | 2002-01-31 | ||
| fully specified name(s) | Williams syndrome (disorder) | ||
| synonyms |
| ||
| attributes - group1 | |||
| Pathological process | Pathological developmental process 308490002 | ||
| Finding site | Long arm of chromosome 312242007 | ||
| Associated morphology | Partial monosomy 371169004 | ||
| Occurrence | Congenital 255399007 | ||
| attributes - group5 | |||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Finding site | Face structure 89545001 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Occurrence | Congenital 255399007 | ||
| attributes - group4 | |||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Finding site | Heart structure 80891009 | ||
| Occurrence | Congenital 255399007 | ||
| attributes - group3 | |||
| Associated morphology | Morphologically abnormal structure 49755003 | ||
| Finding site | Connective tissue structure 21793004 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Occurrence | Congenital 255399007 | ||
| attributes - group2 | |||
| Associated morphology | Partial monosomy 371169004 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Occurrence | Congenital 255399007 | ||
| Finding site | Chromosome pair 7 70488008 | ||
| parents | |||
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding by site 118234003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Structural disorder of heart 128599005 Congenital heart disease 13213009 Williams syndrome 63247009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital connective tissue disorder 363039000 Williams syndrome 63247009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Williams syndrome 63247009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Williams syndrome 63247009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of chromosome pair 7 37367006 Deletion of part of chromosome 7 726377002 7q partial monosomy syndrome 81304006 Williams syndrome 63247009 | ||
| ancestors | sorted most to least specific
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| cpt crosswalks |
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