Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005
SNOMED CT code
| SNOMED code | 1260143005 |
|---|---|
| name | Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
| status | active |
| date introduced | 2022-12-31 |
| fully specified name(s) | Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder) |
| synonyms | Megalencephaly, severe kyphoscoliosis, overgrowth syndrome |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Above reference range 281302008 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebrum 83678007 |
| Associated morphology | Enlargement 442021009 |
| 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 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Macrocephaly 1145403003 Congenital macrocephaly 1145402008 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005 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 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with early overgrowth 48637007 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005 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 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005 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 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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