Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002
SNOMED CT code
SNOMED code | 1254650002 |
---|---|
name | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
status | active |
date introduced | 2022-10-31 |
fully specified name(s) | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) |
synonyms | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome |
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 | Corpus callosum structure 88442005 |
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 |
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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 Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Leukoencephalopathy 22811006 Congenital malformation of corpus callosum 204042007 Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002 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 Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002 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 Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome 1254650002 |
ancestors | sorted most to least specific
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cpt crosswalks |
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