Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007
SNOMED CT code
| SNOMED code | 1187195007 |
|---|---|
| name | Microcephalic cortical malformations, short stature due to RTTN deficiency |
| status | active |
| date introduced | 2021-11-30 |
| fully specified name(s) | Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
| synonyms |
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| attributes - group3 | |
| 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 | Cerebral cortex 40146001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| 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 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Disorder of cerebral cortex 128128003 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Primordial dwarfism 237837007 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 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 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 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 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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