8q13 microdeletion syndrome 724147004
SNOMED CT code
| SNOMED code | 724147004 |
|---|---|
| name | 8q13 microdeletion syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | 8q13 microdeletion syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Finding site | Chromosome pair 8 77826001 |
| Associated morphology | Deletion of long arm 64329008 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Chromosome pair 8 77826001 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dysplasia 25723000 |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 8q13 microdeletion syndrome 724147004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Acromesomelic dysplasia syndrome 279082008 8q13 microdeletion syndrome 724147004 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 8q13 microdeletion syndrome 724147004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 8q13 microdeletion syndrome 724147004 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 8q13 microdeletion syndrome 724147004 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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