Chitty Hall Baraitser syndrome 716238003
SNOMED CT code
| SNOMED code | 716238003 |
|---|---|
| name | Chitty Hall Baraitser syndrome |
| status | active |
| date introduced | 2016-07-31 |
| fully specified name(s) | Deafness with epiphyseal dysplasia and short stature syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Femoral epiphysis 314625005 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group4 | |
| Has interpretation | Impaired 260379002 |
| Interprets | Hearing 47078008 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Auditory structure 91159003 |
| attributes - group5 | |
| Clinical course | Progressive 255314001 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding of limb structure 302293008 Finding of lower limb 116312005 Finding of bone of lower limb 879910002 Congenital anomaly of femur 123561001 Chitty Hall Baraitser syndrome 716238003 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Chitty Hall Baraitser syndrome 716238003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of musculoskeletal system 128237006 Epiphyseal dysplasia 254080004 Chitty Hall Baraitser syndrome 716238003 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Chitty Hall Baraitser syndrome 716238003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Chitty Hall Baraitser syndrome 716238003 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Chitty Hall Baraitser syndrome 716238003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Congenital sensorineural hearing loss 700453005 Chitty Hall Baraitser syndrome 716238003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Chitty Hall Baraitser syndrome 716238003 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Congenital dysplasia of limb 88631000119105 Chitty Hall Baraitser syndrome 716238003 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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