Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002
SNOMED CT code
| SNOMED code | 722389002 |
|---|---|
| name | Congenital hereditary facial paralysis with variable hearing loss syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) |
| synonyms |
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| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Eye region structure 371398005 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Face structure 89545001 |
| attributes - group7 | |
| Interprets | Movement 255324009 |
| attributes - group1 | |
| Interprets | Movement observable 363847004 |
| Has interpretation | Absent 2667000 |
| attributes - group6 | |
| Finding site | Facial nerve structure 56052001 |
| attributes - group5 | |
| Finding site | Auditory structure 91159003 |
| attributes - group4 | |
| Interprets | Hearing 47078008 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Finding of head and neck region 118254002 Facial nerve disorder 422426003 Facial palsy 280816001 Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002 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 Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Hearing disorder 128540005 Hearing loss 15188001 Sensorineural hearing loss 60700002 Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002 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 Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital strabismus 95509009 Congenital hereditary facial paralysis with variable hearing loss syndrome 722389002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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