Blepharophimosis, intellectual disability syndrome 788584007
SNOMED CT code
| SNOMED code | 788584007 |
|---|---|
| name | Blepharophimosis, intellectual disability syndrome |
| status | active |
| date introduced | 2020-01-31 |
| fully specified name(s) | Blepharophimosis, intellectual disability syndrome (disorder) |
| synonyms | Blepharophimosis, intellectual disability syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Narrowed structure 25659002 |
| Finding site | Structure of palpebral fissure 595000 |
| attributes - group2 | |
| Finding site | Eyelid structure 80243003 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Deformity 6081001 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents | |
| children |
|
| 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 Blepharophimosis, intellectual disability syndrome 788584007 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Congenital deformity 276655000 Congenital deformity of face 398206004 Blepharophimosis, intellectual disability syndrome 788584007 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Deformity of eyelid 430960001 Blepharophimosis, intellectual disability syndrome 788584007 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 Blepharophimosis, intellectual disability syndrome 788584007 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Eyelid finding 246812007 Palpebral fissure finding 386656009 Narrowing of palpebral fissure 370116005 Congenital blepharophimosis 93040009 Blepharophimosis, intellectual disability syndrome 788584007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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