DOORS syndrome 719800009
SNOMED CT code
| SNOMED code | 719800009 |
|---|---|
| name | DOORS syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dystrophy 4720007 |
| Finding site | Bone structure 272673000 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Ectoderm structure 63206006 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group3 | |
| Associated morphology | Dystrophy 4720007 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Nail unit structure 770802007 |
| attributes - group5 | |
| Occurrence | Congenital 255399007 |
| Finding site | Auditory structure 91159003 |
| attributes - group7 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group8 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Has interpretation | Decreased 1250004 |
| Interprets | Hearing 47078008 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 DOORS syndrome 719800009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital osteodystrophy 5731000119108 DOORS syndrome 719800009 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 Deafness with onychodystrophy syndrome 773735007 DOORS syndrome 719800009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 DOORS syndrome 719800009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 DOORS syndrome 719800009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 DOORS syndrome 719800009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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