1p35.2 microdeletion syndrome 1228844002
SNOMED CT code
| SNOMED code | 1228844002 |
|---|---|
| name | 1p35.2 microdeletion syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | 1p35.2 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group4 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Short arm of chromosome 278145009 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Chromosome pair 1 46507000 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 1p35.2 microdeletion syndrome 1228844002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 1p35.2 microdeletion syndrome 1228844002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of chromosome pair 1 74769007 Deletion of part of chromosome 1 726365007 1p partial monosomy 36369001 1p35.2 microdeletion syndrome 1228844002 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 1p35.2 microdeletion syndrome 1228844002 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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