Ectodermal dysplasia with blindness syndrome 721208007
SNOMED CT code
| SNOMED code | 721208007 |
|---|---|
| name | Ectodermal dysplasia with blindness syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Ectodermal dysplasia with blindness syndrome (disorder) |
| synonyms | Ectodermal dysplasia with blindness syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Eye structure 81745001 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Ectoderm structure 63206006 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Hair structure 386045008 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group5 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Tooth structure 38199008 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Ectodermal dysplasia with blindness syndrome 721208007 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Disorder of digestive system 53619000 Digestive system hereditary disorder 363080007 Hereditary disorder of tooth 1148766007 Ectodermal dysplasia with blindness syndrome 721208007 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of eye 19416009 Ectodermal dysplasia with blindness syndrome 721208007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of embryonic structure 609521009 Congenital ectodermal defect 254154003 Ectodermal dysplasia 8654005 Ectodermal dysplasia with hair-tooth defects 239027006 Ectodermal dysplasia with blindness syndrome 721208007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Ectodermal dysplasia with blindness syndrome 721208007 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Ectodermal dysplasia with blindness syndrome 721208007 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Ectodermal dysplasia with blindness syndrome 721208007 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 Ectodermal dysplasia with blindness syndrome 721208007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Ectodermal dysplasia with blindness syndrome 721208007 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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