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112635002: Congenital malformation (morphologic abnormality)


    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    183283010 Congenital malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital malformation Is a Congenital anomaly false Inferred relationship Existential restriction modifier

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Bardet-Biedl syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Cohen syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Pallister-Hall syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Multiple malformation syndrome due to non-infectious environmental agents Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Seckel syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Diastrophic dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Klippel-Trenaunay-Weber syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Persistent omphalomesenteric artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Multiple epiphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Hyperphosphatasemia tarda Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Lethal multiple pterygium syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Maternal phenylketonuria fetal effect Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Fragile X syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Jarcho-Levin syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Fetal methyl mercury syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Familial arthrogryposis-cholestatic hepatorenal syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Chondroectodermal dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Franceschetti-Klein syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Frontometaphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Weaver syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Hajdu-Cheney syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Williams syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Larsen syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Dens evaginatus Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Myxedematous form of cretinism Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Multiple malformation syndrome with facial defects as major feature Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Cleidocranial dysostosis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 4
    Fetal aminopterin syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Miller syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Fetal trimethadione syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Sirenoform monster Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Cerebral-retinal arteriovenous aneurysm Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, limb defects syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Ataxia-telangiectasia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Limb reduction-ichthyosis syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Rothmund-Thomson syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Fetal hydantoin syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Hyperthermia-induced defect Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Congenital adhesions of tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Crooked calf syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Allemann's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    X-linked hydrocephalus syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Aase syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Moore-Federman syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Pena-Shokeir phenotype Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Marshall-Smith syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Jugular lymphatic obstruction sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Tongue absent Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Endemic cretinism Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Sotos' syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Johanson-Blizzard syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Septo-optic dysplasia sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Robinow syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Angelman syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Amyoplasia congenita disruptive sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Grebe syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Multiple malformation syndrome, moderate short stature, facial Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Neu-Laxova syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Steinert myotonic dystrophy syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Tuberculum paramolare Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 4
    Stickler syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Hallermann-Streiff syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Lowe syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Wildervanck syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Blepharophimosis syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Aplasia of cementum Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Marinesco-Sjögren syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Escobar syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Mulibrey nanism syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Opitz-Frias syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Treacher Collins syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Multiple system malformation syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Dyggve-Melchior-Clausen syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Kenny syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Caudal regression syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Shprintzen syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Amniotic band syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Arteriovenous malformation of liver Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Bifid tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Sporadic cretinism Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Radial aplasia-thrombocytopenia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Immotile cilia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Tetralogy of Fallot Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 5
    Schwartz syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Distichiasis-lymphedema syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Hutchinson's teeth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Frontonasal dysplasia sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Bird tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Hecht syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Rokitansky sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Noonan syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Zellweger syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Prader-Willi syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Oromandibular-limb hypogenesis spectrum Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Pyknodysostosis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Warburg syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Sirenomelia sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Congenital anomaly of carotid artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital elongation of innominate artery Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Lethal Kniest-like syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier

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    This concept is not in any reference sets

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