Brachytelephalangic chondrodysplasia punctata 778067002
SNOMED CT code
| SNOMED code | 778067002 |
|---|---|
| name | Brachytelephalangic chondrodysplasia punctata |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Brachytelephalangic chondrodysplasia punctata (disorder) |
| synonyms |
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| attributes - group1 | |
| Finding site | Bone structure 272673000 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dysplasia 25723000 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 Brachytelephalangic chondrodysplasia punctata 778067002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Chondrodysplasia punctata 278715001 Brachytelephalangic chondrodysplasia punctata 778067002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Brachytelephalangic chondrodysplasia punctata 778067002 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Brachytelephalangic chondrodysplasia punctata 778067002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Metabolic bone disease 50279003 Brachytelephalangic chondrodysplasia punctata 778067002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Brachytelephalangic chondrodysplasia punctata 778067002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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