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 |
| Finding site | Choroidal structure 68703001 |
| attributes - group2 | |
| Clinical course | Progressive 255314001 |
| attributes - group3 | |
| Finding site | Cerebellar structure 113305005 |
| attributes - group4 | |
| Finding site | Structure of distal part of pituitary 52618001 |
| attributes - group5 | |
| Finding site | Gonadal endocrine structure 304041004 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of genitourinary system 128290005 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Disorder of pituitary gland 399244003 Disorder of anterior pituitary 51742006 Hypogonadotropic hypogonadism 33927004 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Hereditary disorder of endocrine system 363104002 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Hereditary disorder by system 363137000 Reproductive system hereditary disorder 363290007 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 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 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Boucher Neuhäuser syndrome 715984007 SNOMED CT Concept 138875005 Clinical finding 404684003 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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