Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
SNOMED CT code
| SNOMED code | 733031004 |
|---|---|
| name | Epilepsy, microcephaly, skeletal dysplasia syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Congenital smallness 41086002 |
| Finding site | Head structure 69536005 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Bone structure 272673000 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group5 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Birth head circumference 169876006 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Finding site | Cerebrum 83678007 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 Skeletal dysplasia 105986008 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 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 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 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 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Epilepsy 84757009 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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