Congenital malformation syndrome 400038003 SNOMED CT code SNOMED code 400038003 name Congenital malformation syndrome status active date introduced 2003-07-31 fully specified name(s) Congenital malformation syndrome (disorder) synonyms Congenital malformation syndrome Multiple congenital malformations Multiple congenital anomalies attributes - group1 Associated morphology Morphologically abnormal structure 49755003 Pathological process Pathological developmental process 308490002 Occurrence Congenital 255399007 parents Congenital malformation 276654001 children Acrocephalosyndactyly 268262006 Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma 403766000 Amegakaryocytic thrombocytopenia with congenital malformation 359531004 Bitemporal scars with abnormal eyelashes 403771007 removed: 2020-01-31 Cardio-acral-facial syndrome 403769007 Cardio-facio-cutaneous syndrome 403770008 Cleft palate lateral synechia syndrome 403772000 Congenital malformation due to cytotoxic agents 254246009 Congenital malformation syndromes affecting facial appearance 205797000 Congenital malformation syndromes associated with short stature 205808005 Congenital malformation syndromes involving limbs 205812004 Congenital malformation syndromes with metabolic disturbances 205826008 Facial milia, lobate tongue, lingual and labial frenula syndrome 403773005 Facio-auriculo-vertebral spectrum 367462009 Fetal carbamazepine syndrome 254249002 Fetal iodine syndrome 718228001 First and second branchial arch syndrome 703973009 Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance 93466004 Gorlin-Chaudhry-Moss syndrome 205800003 Indomethacin embryofetopathy 715430001 Malformation association 105988009 removed: 2020-01-31 Malformation defect spectrum 105987004 removed: 2020-01-31 Malformation sequence 105989001 Methimazole embryofetopathy 724144006 Microcornea, myopic chorioretinal atrophy, telecanthus syndrome 774212003 Multiple congenital anomalies of fetus 62781000119101 removed: 2020-01-31 Multiple system malformation syndrome 82354003 Mycophenolate mofetil embryopathy 723406000 Narcotic embryopathy 432111000124106 Schisis association syndrome 718095000 X-linked intellectual disability Abidi type 719018008 X-linked intellectual disability Armfield type 719017003 X-linked intellectual disability Miles Carpenter type 719012009 X-linked intellectual disability Pai type 719011002 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 5294002 276654001 400038003 ancestors sorted most to least specific
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