Infantile osteopetrosis with neuroaxonal dysplasia syndrome 724226009
SNOMED CT code
| SNOMED code | 724226009 |
|---|---|
| name | Infantile osteopetrosis with neuroaxonal dysplasia syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Agenesis 782173000 |
| Occurrence | Congenital 255399007 |
| Finding site | Entire corpus callosum 362354006 |
| attributes - group3 | |
| Interprets | Osteoclast turnover rate 43857005 |
| Has interpretation | Below reference range 281300000 |
| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of musculoskeletal system 128237006 Osteopetrosis 1926006 Infantile osteopetrosis with neuroaxonal dysplasia syndrome 724226009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Infantile osteopetrosis with neuroaxonal dysplasia syndrome 724226009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Hemianencephaly 85641006 Aplasia of corpus callosum 204044008 Agenesis of corpus callosum 5102002 Infantile osteopetrosis with neuroaxonal dysplasia syndrome 724226009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Infantile osteopetrosis with neuroaxonal dysplasia syndrome 724226009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Infantile osteopetrosis with neuroaxonal dysplasia syndrome 724226009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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