Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 734349003
SNOMED CT code
| SNOMED code | 734349003 |
|---|---|
| name | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
| status | active |
| date introduced | 2018-01-31 |
| fully specified name(s) | Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) |
| synonyms |
|
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Partial monosomy 371169004 |
| Finding site | Chromosome pair 16 39220001 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Short arm of chromosome 278145009 |
| Associated morphology | Partial monosomy 371169004 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Occurrence | Congenital 255399007 |
| Finding site | Erythrocyte 41898006 |
| attributes - group8 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Measurement of total hemoglobin concentration 441689006 |
| attributes - group9 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Red blood cell count 14089001 |
| 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 Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 734349003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 734349003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 734349003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital anemia 63565007 Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 734349003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Hereditary hemoglobinopathy 427306008 Thalassemia 40108008 Alpha thalassemia 68913001 Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 734349003 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 16 53392002 Deletion of part of chromosome 16 726387003 Deletion of part of short arm of chromosome 16 726388008 Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 734349003 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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