Perlman syndrome 722231005
SNOMED CT code
| SNOMED code | 722231005 |
|---|---|
| name | Perlman syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Perlman syndrome (disorder) |
| synonyms | Perlman syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Associated morphology | Hamartoma 51398009 |
| Occurrence | Congenital 255399007 |
| Finding site | Kidney structure 64033007 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Renal mass 309088003 Perlman syndrome 722231005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Perlman syndrome 722231005 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Kidney disease 90708001 Hereditary nephropathy 367591000119105 Perlman syndrome 722231005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hamartoma 399960008 Perlman syndrome 722231005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with early overgrowth 48637007 Perlman syndrome 722231005 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 Perlman syndrome 722231005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Hereditary cancer-predisposing syndrome 699346009 Perlman syndrome 722231005 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Kidney disease 90708001 Kidney lesion 79131000119100 Perlman syndrome 722231005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Perlman syndrome 722231005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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