Rhizomelic chondrodysplasia punctata syndrome 56692003
SNOMED CT code
| SNOMED code | 56692003 | ||
|---|---|---|---|
| name | Rhizomelic chondrodysplasia punctata syndrome | ||
| status | active | ||
| date introduced | 2002-01-31 | ||
| fully specified name(s) | Rhizomelic chondrodysplasia punctata syndrome (disorder) | ||
| synonyms |
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| attributes - group2 | |||
| Occurrence | Congenital 255399007 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Associated morphology | Dysplasia 25723000 | ||
| Finding site | Bone structure 272673000 | ||
| attributes - group1 | |||
| Occurrence | Congenital 255399007 | ||
| Pathological process | Pathological developmental process 308490002 | ||
| Associated morphology | Deformity 6081001 | ||
| Finding site | Structure of epiphysis 43719000 | ||
| parents | |||
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of peroxisomal function 238059005 Loss of multiple peroxisomal functions 238063003 Rhizomelic chondrodysplasia punctata syndrome 56692003 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Musculoskeletal finding 106028002 Bone finding 118953000 Disorder of bone 76069003 Disorder of epiphysis 240172008 Rhizomelic chondrodysplasia punctata syndrome 56692003 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Deformity of bone 271084006 Rhizomelic chondrodysplasia punctata syndrome 56692003 SNOMED CT Concept 138875005 Clinical finding 404684003 Deformity 417893002 Congenital deformity 276655000 Rhizomelic chondrodysplasia punctata syndrome 56692003 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 Rhizomelic chondrodysplasia punctata syndrome 56692003 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Rhizomelic chondrodysplasia punctata syndrome 56692003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Metabolic bone disease 50279003 Rhizomelic chondrodysplasia punctata syndrome 56692003 | ||
| ancestors | sorted most to least specific
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| cpt crosswalks |
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