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112635002: Congenital malformation (morphologic abnormality)

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

    Descriptions:

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

    0 descendants.

    Expanded Value Set

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

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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