PDE4D haploinsufficiency syndrome 1236843008
SNOMED CT code
| SNOMED code | 1236843008 |
|---|---|
| name | PDE4D haploinsufficiency syndrome |
| status | active |
| date introduced | 2022-08-31 |
| fully specified name(s) | Phosphodiesterase 4D haploinsufficiency syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Limb structure 66019005 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 PDE4D haploinsufficiency syndrome 1236843008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 PDE4D haploinsufficiency syndrome 1236843008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 PDE4D haploinsufficiency syndrome 1236843008 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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