TBCK-related intellectual disability syndrome 1172628002
SNOMED CT code
| SNOMED code | 1172628002 |
|---|---|
| name | TBCK-related intellectual disability syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | TBC1 domain containing kinase-related intellectual disability syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Central nervous system structure 21483005 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 TBCK-related intellectual disability syndrome 1172628002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 TBCK-related intellectual disability syndrome 1172628002 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 TBCK-related intellectual disability syndrome 1172628002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 TBCK-related intellectual disability syndrome 1172628002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 TBCK-related intellectual disability syndrome 1172628002 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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