Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005
SNOMED CT code
| SNOMED code | 1254652005 |
|---|---|
| name | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome |
| status | active |
| date introduced | 2022-10-31 |
| fully specified name(s) | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder) |
| synonyms |
|
| attributes - group4 | |
| Interprets | Muscle tone 6918002 |
| Has interpretation | Decreased 1250004 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Above reference range 281302008 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Head structure 69536005 |
| 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 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| parents |
|
| 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 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Macrocephaly 1145403003 Congenital macrocephaly 1145402008 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Mental disorder 74732009 Developmental mental disorder 129104009 Disorder of psychological development 192562009 Pervasive developmental disorder 35919005 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Muscle tone - finding 366725004 Decreased muscle tone 398151007 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Poor muscle tone 398152000 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 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 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
Thank you for choosing Find-A-Code, please Sign In to remove ads.
Quick, Current, Complete - www.findacode.com