Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome 1208720000
SNOMED CT code
| SNOMED code | 1208720000 |
|---|---|
| name | Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome |
| status | active |
| date introduced | 2022-03-31 |
| fully specified name(s) | Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) |
| synonyms |
|
| attributes - group6 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Above reference range 281302008 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Head structure 69536005 |
| Associated morphology | Enlargement 442021009 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group5 | |
| Occurrence | Congenital 255399007 |
| Finding site | Entire corpus callosum 362354006 |
| Associated morphology | Agenesis 782173000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group2 | |
| 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 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome 1208720000 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Macrocephaly 1145403003 Congenital macrocephaly 1145402008 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome 1208720000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Hemianencephaly 85641006 Aplasia of corpus callosum 204044008 Agenesis of corpus callosum 5102002 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome 1208720000 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 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome 1208720000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome 1208720000 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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