Fragile X syndrome 613003
SNOMED CT code
| SNOMED code | 613003 |
|---|---|
| name | Fragile X syndrome |
| status | active |
| date introduced | 2002-01-31 |
| fully specified name(s) | Fragile X syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Sex chromosome X 72837006 |
| Associated morphology | Chromosomal morphology 107675007 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| children | Symptomatic form of fragile X syndrome in female carrier 1237344003 |
| 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 Fragile X syndrome 613003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked dominant hereditary disease 1162984000 Fragile X syndrome 613003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of sex chromosome 95462004 Anomaly of chromosome X 111312006 Fragile X chromosome 205720009 Fragile X syndrome 613003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Fragile X syndrome 613003 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 Fragile X syndrome 613003 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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