5-amino-4-imidazole carboxamide ribosiduria 725289009
SNOMED CT code
SNOMED code | 725289009 |
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name | 5-amino-4-imidazole carboxamide ribosiduria |
status | active |
date introduced | 2017-07-31 |
fully specified name(s) | 5-amino-4-imidazole carboxamide ribosiduria (disorder) |
synonyms |
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attributes - group1 | |
Occurrence | Congenital 255399007 |
Pathological process | Pathological developmental process 308490002 |
Finding site | Macula lutea structure 82859000 |
Associated morphology | Dystrophy 4720007 |
attributes - group2 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Morphologically abnormal structure 49755003 |
Occurrence | Congenital 255399007 |
Finding site | Limb structure 66019005 |
attributes - group3 | |
Interprets | Intellectual ability 247573007 |
Has interpretation | Impaired 260379002 |
attributes - group4 | |
Interprets | Adaptation behavior 406208005 |
Has interpretation | Impaired 260379002 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 5-amino-4-imidazole carboxamide ribosiduria 725289009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Hereditary retinal dystrophy 41799005 Hereditary macular dystrophy 276436007 5-amino-4-imidazole carboxamide ribosiduria 725289009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of purine and pyrimidine metabolism 238006008 Disorder of purine metabolism 32612005 5-amino-4-imidazole carboxamide ribosiduria 725289009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 5-amino-4-imidazole carboxamide ribosiduria 725289009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Globe finding 246915008 Retina finding 399858007 Macula finding 247143009 Macular disorder 312999006 Congenital anomaly of macula 4041005 5-amino-4-imidazole carboxamide ribosiduria 725289009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 5-amino-4-imidazole carboxamide ribosiduria 725289009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 5-amino-4-imidazole carboxamide ribosiduria 725289009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 5-amino-4-imidazole carboxamide ribosiduria 725289009 |
ancestors | sorted most to least specific
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cpt crosswalks |
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