Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005
SNOMED CT code
| SNOMED code | 1187304005 |
|---|---|
| name | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome |
| status | active |
| date introduced | 2022-01-31 |
| fully specified name(s) | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) |
| synonyms |
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| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Thoracic structure 51185008 |
| Associated morphology | Congenital smallness 41086002 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebrum 83678007 |
| Associated morphology | Enlargement 442021009 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Above reference range 281302008 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| 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 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Macrocephaly 1145403003 Congenital macrocephaly 1145402008 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of trunk structure 302292003 Finding of upper trunk 609623002 Finding of region of thorax 298705000 Disorder of thorax 118946009 Congenital anomaly of thorax 363035006 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005 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 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005 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 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 Congenital anomaly of brain 57148006 Congenital anomaly of cerebrum 702628006 Macroencephaly 9740002 Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome 1187304005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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