Fountain syndrome 720957007
SNOMED CT code
| SNOMED code | 720957007 |
|---|---|
| name | Fountain syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Bone structure 272673000 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group4 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Finding site | Auditory structure 91159003 |
| Occurrence | Congenital 255399007 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 Skeletal dysplasia 105986008 Fountain syndrome 720957007 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Fountain syndrome 720957007 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Hearing loss associated with syndrome 232333009 Fountain syndrome 720957007 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Fountain syndrome 720957007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Fountain syndrome 720957007 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Fountain syndrome 720957007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Fountain syndrome 720957007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Congenital sensorineural hearing loss 700453005 Fountain syndrome 720957007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Fountain syndrome 720957007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Fountain syndrome 720957007 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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