Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004
SNOMED CT code
SNOMED code | 15552004 |
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name | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
status | active |
date introduced | 2002-01-31 |
fully specified name(s) | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) |
synonyms | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
attributes - group2 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Dysplasia 25723000 |
Finding site | Bone structure 272673000 |
Occurrence | Congenital 255399007 |
attributes - group4 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Opacity 128305008 |
Occurrence | Congenital 255399007 |
Finding site | Lens clear 78076003 |
attributes - group3 | |
Has interpretation | Abnormal 263654008 |
Interprets | Bone formation 83323007 |
attributes - group1 | |
Finding site | Head structure 69536005 |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Associated morphology | Congenital smallness 41086002 |
attributes - group5 | |
Has interpretation | Below reference range 281300000 |
Interprets | Birth head circumference 169876006 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004 SNOMED CT Concept 138875005 Clinical finding 404684003 Functional finding 118228005 Abnormal bone formation 36123008 Osteogenesis imperfecta 78314001 Osteogenesis imperfecta, perinatal lethal 205496008 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Congenital cataract 79410001 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004 |
ancestors | sorted most to least specific
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cpt crosswalks |
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