Contiguous ABCD1 DXS1357E deletion syndrome 773415005
SNOMED CT code
| SNOMED code | 773415005 |
|---|---|
| name | Contiguous ABCD1 DXS1357E deletion syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Contiguous ABCD1 DXS1357E deletion syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Finding site | Liver structure 10200004 |
| Occurrence | Congenital 255399007 |
| attributes - group1 | |
| Finding site | Nervous system structure 25087005 |
| Occurrence | Congenital 255399007 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 Contiguous ABCD1 DXS1357E deletion syndrome 773415005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Contiguous ABCD1 DXS1357E deletion syndrome 773415005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Metabolic and genetic disorder affecting the liver 235903001 Contiguous ABCD1 DXS1357E deletion syndrome 773415005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of peroxisomal function 238059005 Loss of single peroxisomal function 238066006 Contiguous ABCD1 DXS1357E deletion syndrome 773415005 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Disorder of digestive system 53619000 Digestive system hereditary disorder 363080007 Contiguous ABCD1 DXS1357E deletion syndrome 773415005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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