Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004
SNOMED CT code
| SNOMED code | 1255319004 |
|---|---|
| name | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome |
| status | active |
| date introduced | 2022-10-31 |
| fully specified name(s) | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) |
| synonyms |
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| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Heart structure 80891009 |
| 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 |
| 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 Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Structural disorder of heart 128599005 Congenital heart disease 13213009 Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004 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 Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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