Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002
SNOMED CT code
| SNOMED code | 720856002 |
|---|---|
| name | Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) |
| synonyms |
|
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dystrophy 4720007 |
| Finding site | Macula lutea structure 82859000 |
| attributes - group4 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Skin structure 39937001 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Entire digit 361367007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Absence 418560003 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Ectoderm structure 63206006 |
| Associated morphology | Dysplasia 25723000 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Hereditary retinal dystrophy 41799005 Hereditary macular dystrophy 276436007 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Globe finding 246915008 Retina finding 399858007 Macula finding 247143009 Macular disorder 312999006 Congenital anomaly of macula 4041005 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Adactyly 275348004 Ectrodactyly 81208006 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002 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 ectrodactyly and macular dystrophy syndrome 720856002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of embryonic structure 609521009 Congenital ectodermal defect 254154003 Ectodermal dysplasia 8654005 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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