Xp21 deletion syndrome 1295529002
SNOMED CT code
| SNOMED code | 1295529002 |
|---|---|
| name | Xp21 deletion syndrome |
| status | active |
| date introduced | 2023-12-01 |
| fully specified name(s) | Xp21 deletion syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Adrenal cortex structure 68594002 |
| Associated morphology | Hypoplasia 55199003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Short arm of chromosome 278145009 |
| Associated morphology | Deletion 737543005 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Sex chromosome X 72837006 |
| Associated morphology | Deletion 737543005 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical 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 Xp21 deletion syndrome 1295529002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of carbohydrate metabolism 20957000 Disorder of glycerol metabolism 237977000 Deficiency of glycerol kinase 124322002 Xp21 deletion syndrome 1295529002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Xp21 deletion syndrome 1295529002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Hereditary disorder of endocrine system 363104002 Xp21 deletion syndrome 1295529002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Xp21 deletion syndrome 1295529002 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Disorder of adrenal gland 30171000 Congenital anomaly of adrenal gland 60637003 Congenital hypoplasia of adrenal gland 93235007 Xp21 deletion syndrome 1295529002 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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