Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002
SNOMED CT code
| SNOMED code | 1208727002 |
|---|---|
| name | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
| status | active |
| date introduced | 2022-03-31 |
| fully specified name(s) | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) |
| synonyms | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
| attributes - group5 | |
| Interprets | Birth head circumference 169876006 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Head structure 69536005 |
| Associated morphology | Congenital smallness 41086002 |
| 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 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebellar structure 113305005 |
| Associated morphology | Hypoplasia 55199003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Entire corpus callosum 362354006 |
| Associated morphology | Agenesis 782173000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Cerebellar disorder 223176004 Dysgenesis of the cerebellum 253171007 Congenital cerebellar hypoplasia 16026008 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Severe mental retardation (I.Q. 20-34) 40700009 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002 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 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002 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 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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