RHYNS syndrome 723999009
SNOMED CT code
| SNOMED code | 723999009 |
|---|---|
| name | RHYNS syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) |
| synonyms |
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| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Pituitary structure 56329008 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Kidney structure 64033007 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Bone structure 272673000 |
| Associated morphology | Dysplasia 25723000 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dystrophy 4720007 |
| Finding site | Retinal structure 5665001 |
| attributes - group5 | |
| Finding site | Structure of medulla of kidney 30737000 |
| Associated morphology | Fibrocystic change 367647000 |
| 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 RHYNS syndrome 723999009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive retinitis pigmentosa 232053004 RHYNS syndrome 723999009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Cyst 441457006 Cyst of abdomen 446064000 Retroperitoneal cyst 236011003 Cyst of kidney 722223000 Medullary cystic disease of the kidney 204957003 Nephronophthisis - medullary cystic disease 253882001 RHYNS syndrome 723999009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 RHYNS syndrome 723999009 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 RHYNS syndrome 723999009 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 RHYNS syndrome 723999009 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 RHYNS syndrome 723999009 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Kidney disease 90708001 Hereditary nephropathy 367591000119105 RHYNS syndrome 723999009 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 RHYNS syndrome 723999009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Disorder of pituitary gland 399244003 Hypopituitarism 74728003 RHYNS syndrome 723999009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 RHYNS syndrome 723999009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 RHYNS syndrome 723999009 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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