SNOMED CT code SNOMED code 109420003 name Dysostosis status active date introduced 2002-01-31 fully specified name(s) Dysostosis (disorder) synonyms Dysostosis attributes - group1 Pathological process Pathological developmental process 308490002 Associated morphology Dysplasia 25723000 Finding site Bone structure 272673000 Occurrence Congenital 255399007 parents children Absent radius, anogenital anomalies syndrome 771264005 Acrodysostosis 66758006 Acrodysplasia scoliosis 773773006 Acrofacial dysostosis Catania type 720419000 Acrofacial dysostosis Kennedy Teebi type 720427009 Acrofacial dysostosis Palagonia type 720429007 Acrofacial dysostosis Rodriguez type 720430002 Acropectorovertebral dysplasia 720457000 Ankylosing vertebral hyperostosis with tylosis syndrome 720492008 Autosomal dominant spondylocostal dysostosis 716232002 Bipartite talus 763128009 Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000 Camptodactyly and tall stature with scoliosis and hearing loss syndrome 720601000 Carney complex, trismus, pseudocamptodactyly syndrome 766881008 Catel Manzke syndrome 722383001 Cerebro-facio-thoracic dysplasia 720635002 Congenital hypoplasia of ulna and intellectual disability syndrome 719842006 Coxopodopatellar syndrome 720752007 Dysostosis of bone of skull 128219005 Ectrodactyly polydactyly syndrome 771177009 Endocrine-cerebro-osteodysplasia syndrome 723309006 Fibular aplasia and ectrodactyly syndrome 720952001 Filippi syndrome 720954000 Fronto-frontal dysostosis 109410008 Fuhrmann syndrome 721296004 Guttmacher syndrome 722452004 Hallux varus, preaxial polysyndactyly syndrome 771180005 Heart-hand syndrome Slovenian type 721014007 Heart-hand syndrome type 2 721010003 Heart-hand syndrome type 3 721013001 Holt-Oram syndrome 19092004 Imperforate oropharynx, costovertebral anomalies syndrome 771185000 Ischio-vertebral syndrome 715654001 Jarcho-Levin syndrome 61367005 Karsch Neugebauer syndrome 722032005 Klippel-Feil sequence 5601008 Long thumb brachydactyly syndrome 733454004 Mandibuloacral dysostosis 109419009 Melhem Fahl syndrome 732263008 Morava Mehes syndrome 719843001 Nail-patella syndrome 22199006 Naso-maxillary dysostosis 109400004 Oculootoradial syndrome 722019000 Oliver syndrome 721017000 Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome 722211006 Patterson Stevenson Fontaine syndrome 724069009 Pelvic dysplasia, arthrogryposis of lower limbs syndrome 783140003 Pelvis shoulder dysplasia 719298001 Pelviscapular dysplasia 719299009 Peripheral dysostosis 773985008 Postaxial tetramelic oligodactyly 770946000 Progressive non-infectious anterior vertebral fusion 719268008 Radial deficiency, tibial hypoplasia syndrome 783137003 Splenogonadal fusion, limb defect, micrognathia syndrome 726724005 Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome 723610009 Spondylocostal dysostosis, hypospadias, intellectual disability syndrome 773578004 Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome 783553008 Syndactyly, polydactyly, ear lobe syndrome 783700001 Tall stature, scoliosis, macrodactyly of great toe syndrome 770788000 Teebi Shaltout syndrome 771265006 Temtamy preaxial brachydactyly syndrome 777998000 Tetramelic monodactyly 770945001 Thrombocythemia with distal limb defect 771511005 Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome 764857004 X-linked mandibulofacial dysostosis 719813003 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 5294002 276654001 73573004 105986008 109420003 138875005 404684003 64572001 5294002 371521007 8447006 109420003 ancestors sorted most to least specific
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