Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome 719910004
SNOMED CT code
| SNOMED code | 719910004 |
|---|---|
| name | Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Ectoderm structure 63206006 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group2 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Hair structure 386045008 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Finding site | Tooth structure 38199008 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome 719910004 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 Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome 719910004 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 Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome 719910004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome 719910004 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome 719910004 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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