Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002
SNOMED CT code
SNOMED code | 718766002 |
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name | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome |
status | active |
date introduced | 2017-01-31 |
fully specified name(s) | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) |
synonyms |
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attributes - group4 | |
Occurrence | Congenital 255399007 |
Associated morphology | Congenital premature fusion 67798003 |
Finding site | Joint structure of suture of skull 51863000 |
Pathological process | Pathological developmental process 308490002 |
attributes - group3 | |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Finding site | Bone structure 272673000 |
Associated morphology | Dysplasia 25723000 |
attributes - group2 | |
Finding site | Lens clear 78076003 |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Associated morphology | Opacity 128305008 |
attributes - group1 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Developmental failure of fusion 371520008 |
Occurrence | Congenital 255399007 |
Finding site | Palatal structure 72914001 |
attributes - group5 | |
Interprets | Intellectual ability 247573007 |
Has interpretation | Impaired 260379002 |
attributes - group6 | |
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 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Congenital anomaly of bone and joint 237513002 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Spondyloepiphyseal dysplasia congenita 278713008 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Joint finding 118952005 Cranial suture finding 248387005 Imperfect fusion of skull 23939000 Craniosynostosis syndrome 57219006 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Congenital cataract 79410001 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Orofacial cleft 449790007 Cleft palate 87979003 Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002 |
ancestors | sorted most to least specific
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cpt crosswalks |
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