Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000
SNOMED CT code
| SNOMED code | 782753000 |
|---|---|
| name | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Cerebellar structure 113305005 |
| Associated morphology | Hypoplasia 55199003 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| 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 Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000 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 Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Cerebellar ataxia 85102008 Early onset cerebellar ataxia 230227009 Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000 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 Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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