Saldino-Mainzer dysplasia 254092004
SNOMED CT code
| SNOMED code | 254092004 |
|---|---|
| name | Saldino-Mainzer dysplasia |
| status | active |
| date introduced | 2002-01-31 |
| fully specified name(s) | Saldino-Mainzer dysplasia (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Structure of retinal pigment epithelium 41275009 |
| Associated morphology | Dystrophy 4720007 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dysplasia 25723000 |
| Finding site | Kidney structure 64033007 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dysplasia 25723000 |
| Finding site | Bone structure 272673000 |
| attributes - group4 | |
| Finding site | Cerebellar structure 113305005 |
| Occurrence | Congenital 255399007 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 Skeletal dysplasia 105986008 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Kidney disease 90708001 Kidney lesion 79131000119100 Renal dysplasia 204949001 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of sensory organ 1279550006 Disorder of eye 371405004 Anomaly of eye 11131000119108 Retinal pigment epithelial abnormality 421689001 Retinal pigment epithelial dystrophy 342581000119102 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Kidney disease 90708001 Hereditary nephropathy 367591000119105 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Globe finding 246915008 Retina finding 399858007 Retinal disorder 29555009 Congenital anomaly of retina 49381001 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Cerebellar ataxia 85102008 Saldino-Mainzer dysplasia 254092004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Saldino-Mainzer dysplasia 254092004 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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