Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005
SNOMED CT code
SNOMED code | 773398005 |
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name | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome |
status | active |
date introduced | 2019-01-31 |
fully specified name(s) | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) |
synonyms |
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attributes - group1 | |
Occurrence | Congenital 255399007 |
Finding site | Lens clear 78076003 |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Opacity 128305008 |
attributes - group5 | |
Interprets | Muscle tone 6918002 |
attributes - group2 | |
Finding site | Skeletal muscle structure 127954009 |
Occurrence | Congenital 255399007 |
attributes - group3 | |
Finding site | Auditory structure 91159003 |
Occurrence | Congenital 255399007 |
attributes - group4 | |
Interprets | Hearing 47078008 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 Mitochondrial myopathy 16851005 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Poor muscle tone 398152000 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Congenital sensorineural hearing loss 700453005 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Congenital cataract 79410001 Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 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 cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005 |
ancestors | sorted most to least specific
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cpt crosswalks |
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