Endosteal hyperostoses with cerebellar hypoplasia 254132000
SNOMED CT code
| SNOMED code | 254132000 |
|---|---|
| name | Endosteal hyperostoses with cerebellar hypoplasia |
| status | active |
| date introduced | 2002-01-31 |
| fully specified name(s) | Endosteal hyperostoses with cerebellar hypoplasia (disorder) |
| synonyms | Endosteal hyperostoses with cerebellar hypoplasia |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Dysplasia 25723000 |
| Finding site | Bone structure 272673000 |
| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group3 | |
| Interprets | Osteoclast turnover rate 43857005 |
| Has interpretation | Below reference range 281300000 |
| attributes - group2 | |
| Has interpretation | Above reference range 281302008 |
| Interprets | Bone density scan 312681000 |
| attributes - group6 | |
| Associated morphology | Hypoplasia 55199003 |
| Finding site | Cerebellar structure 113305005 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Cerebellar disorder 223176004 Dysgenesis of the cerebellum 253171007 Congenital cerebellar hypoplasia 16026008 Endosteal hyperostoses with cerebellar hypoplasia 254132000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Bone finding 118953000 Disorder of bone 76069003 Dysplasia with increased bone density 254120004 Endosteal hyperostoses 254130008 Endosteal hyperostoses with cerebellar hypoplasia 254132000 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 Endosteal hyperostoses with cerebellar hypoplasia 254132000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Endosteal hyperostoses with cerebellar hypoplasia 254132000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Endosteal hyperostoses with cerebellar hypoplasia 254132000 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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