8q24.3 microdeletion syndrome 1229895008
SNOMED CT code
SNOMED code | 1229895008 |
---|---|
name | 8q24.3 microdeletion syndrome |
status | active |
date introduced | 2022-05-31 |
fully specified name(s) | 8q24.3 microdeletion syndrome (disorder) |
synonyms |
|
attributes - group1 | |
Occurrence | Congenital 255399007 |
Finding site | Chromosome pair 8 77826001 |
Associated morphology | Partial monosomy 371169004 |
attributes - group2 | |
Occurrence | Congenital 255399007 |
Finding site | Skeletal system structure 113192009 |
Associated morphology | Morphologically abnormal structure 49755003 |
Pathological process | Pathological developmental process 308490002 |
attributes - group3 | |
Occurrence | Congenital 255399007 |
Finding site | Face structure 89545001 |
Associated morphology | Morphologically abnormal structure 49755003 |
Pathological process | Pathological developmental process 308490002 |
attributes - group4 | |
Occurrence | Congenital 255399007 |
Finding site | Chromosome pair 8 77826001 |
Associated morphology | Deletion of long arm 64329008 |
attributes - group5 | |
Interprets | Adaptation behavior 406208005 |
Has interpretation | Impaired 260379002 |
attributes - group6 | |
Interprets | Intellectual ability 247573007 |
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 8q24.3 microdeletion syndrome 1229895008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 8q24.3 microdeletion syndrome 1229895008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 8q24.3 microdeletion syndrome 1229895008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of chromosome pair 8 48082007 Deletion of part of chromosome 8 726378007 8q partial monosomy syndrome 29379007 8q24.3 microdeletion syndrome 1229895008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 8q24.3 microdeletion syndrome 1229895008 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 8q24.3 microdeletion syndrome 1229895008 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 8q24.3 microdeletion syndrome 1229895008 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Congenital anomaly of musculoskeletal system 73573004 8q24.3 microdeletion syndrome 1229895008 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 8q24.3 microdeletion syndrome 1229895008 |
ancestors | sorted most to least specific
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cpt crosswalks |
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