Boucher Neuhäuser syndrome 715984007
SNOMED CT code
| SNOMED code | 715984007 | ||
|---|---|---|---|
| name | Boucher Neuhäuser syndrome | ||
| status | active | ||
| date introduced | 2016-07-31 | ||
| fully specified name(s) | Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) | ||
| synonyms |
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| attributes - group1 | |||
| Associated morphology | Degenerative abnormality 107669003 | ||
| Occurrence | Congenital 255399007 | ||
| Finding site | Choroidal structure 68703001 | ||
| attributes - group2 | |||
| Occurrence | Congenital 255399007 | ||
| Finding site | Gonadal endocrine structure 304041004 | ||
| attributes - group4 | |||
| Occurrence | Congenital 255399007 | ||
| Finding site | Cerebellar structure 113305005 | ||
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Hereditary disorder of endocrine system 363104002 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Hereditary disorder by system 363137000 Reproductive system hereditary disorder 363290007 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Disorder by body site 123946008 Disorder of body system 362965005 Disorder of endocrine system 362969004 Disorder of endocrine gonad 127345001 Hypogonadism 48130008 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding by site 118234003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Hereditary choroidal dystrophy 74469006 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Clinical history and observation findings 250171008 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Clinical history and observation findings 250171008 Finding of coordination 298314008 Ataxia 20262006 Cerebellar ataxia 85102008 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Boucher Neuhäuser syndrome 715984007 | ||
| ancestors | sorted most to least specific
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| cpt crosswalks |
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