Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004
SNOMED CT code
| SNOMED code | 778023004 |
|---|---|
| name | Syndromic multisystem autoimmune disease due to ITCH deficiency |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) |
| synonyms |
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| attributes - group1 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Face structure 89545001 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Pathological process | Autoimmune process 263680009 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital immunodeficiency disease 36138009 Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of immune function 414029004 Immunodeficiency disorder 234532001 Primary immune deficiency disorder 58606001 Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004 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 Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of immune function 414029004 Autoimmune disease 85828009 Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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