USP18 deficiency 1251449006
SNOMED CT code
| SNOMED code | 1251449006 |
|---|---|
| name | USP18 deficiency |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | Ubiquitin specific peptidase 18 deficiency (disorder) |
| synonyms |
|
| attributes - group3 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Associated morphology | Degenerative abnormality 107669003 |
| Finding site | Brain structure 12738006 |
| attributes - group2 | |
| Finding site | Immune system structure 116003000 |
| Associated morphology | Inflammatory morphology 409774005 |
| Pathological process | Abnormal immune process 769247005 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 USP18 deficiency 1251449006 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 USP18 deficiency 1251449006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of immune function 414029004 Hereditary disorder of immune system 363138005 USP18 deficiency 1251449006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of immune function 414029004 Autoinflammatory disease 42111000175103 USP18 deficiency 1251449006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Degenerative brain disorder 52522001 USP18 deficiency 1251449006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 USP18 deficiency 1251449006 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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