Cardiospondylocarpofacial syndrome 720612000
SNOMED CT code
| SNOMED code | 720612000 |
|---|---|
| name | Cardiospondylocarpofacial syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Cardiospondylocarpofacial syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Bone structure 272673000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Valvular insufficiency 708024004 |
| Finding site | Mitral valve structure 91134007 |
| Occurrence | Congenital 255399007 |
| attributes - group6 | |
| Has interpretation | Impaired 260379002 |
| Interprets | Cardiac function 86185002 |
| attributes - group4 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Height / growth measure 271603002 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Finding site | Ear structure 117590005 |
| Occurrence | Congenital 255399007 |
| 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 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Congenital anomaly of ear with impairment of hearing 111339003 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Disorder of cardiac function 105981003 Heart valve regurgitation 40445007 Congenital valvular insufficiency 1131009 Congenital insufficiency of mitral valve 29928006 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of sensory organ 1279550006 Disorder of ear 25906001 Conductive hearing loss 44057004 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Cardiospondylocarpofacial syndrome 720612000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Cardiospondylocarpofacial syndrome 720612000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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