4q25 proximal deletion syndrome 1251452003
SNOMED CT code
| SNOMED code | 1251452003 |
|---|---|
| name | 4q25 proximal deletion syndrome |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | 4q25 proximal deletion syndrome (disorder) |
| synonyms |
|
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 4 78901007 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Hand structure 85562004 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 4 78901007 |
| Associated morphology | Deletion of long arm 64329008 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of chromosome pair 4 84711007 Deletion of part of chromosome 4 726371001 4q partial monosomy syndrome 37506004 Proximal deletion of long arm of chromosome 4 1003900006 4q25 proximal deletion syndrome 1251452003 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 4q25 proximal deletion syndrome 1251452003 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 4q25 proximal deletion syndrome 1251452003 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Finding of upper limb 116307009 Finding of hand region 116311003 Disorder of hand 118933004 Congenital anomaly of hand 34111000 4q25 proximal deletion syndrome 1251452003 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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