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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 est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Peg-shaped teeth morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Kundrat's syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    syndrome de Ruvalcaba (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    holoprosencéphalie (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Microglossia morphologie associée (attribut) False Congenital malformation Inferred relationship Some 3
    syndrome de Marshall (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Nievergelt's syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    MVRCS association morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Hanhart's syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    syndrome de Nager (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Thalidomide embryopathy syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    dysplasie cranio-métaphysaire (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Retinoic acid embryopathy morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Royer's syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Oculodentodigital syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Fetal warfarin syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Dolichocephalic dwarfism morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Facio-auriculo-vertebral spectrum morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Mietens (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    De Lange syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Langer-Giedion syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 3
    Cerebro-oculo-facio-skeletal syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with limb defect as major feature morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome, small stature, without skeletal dysplasia morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Kartagener morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome oto-palato-digital type 2 (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Ectopic tooth morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Atelosteogenesis morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Smith-Lemli-Opitz morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Bloom (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Rubinstein-Taybi (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Ruvalcaba-Myhre syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Robin sequence (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Waardenburg (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Rieger syndrome (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Otocephalic syndrome (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with early overgrowth (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Roberts-SC phocomelia syndrome (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Duhamel's syndrome (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    FG syndrome (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Osteochondrodysplasia with osteopetrosis (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Grob's syndrome (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Asymmetric crying face association (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Werner (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome cérébrocostomandibulaire (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Akabane virus disease (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    dysplasie spondylo-épiphysaire tardive (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Freeman-Sheldon (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Oral-facial-digital syndrome (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    dysplasie de Kniest (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome oto-palato-digital type 1 (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Hay-Wells syndrome of ectodermal dysplasia (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    syndrome d'athyroïdie morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Bardet-Biedl morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Cohen (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome de Pallister-Hall (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome due to non-infectious environmental agents (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    nanisme à tête d'oiseau morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Diastrophic dysplasia (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    angiodysplasie ostéodystrophique morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Persistent omphalomesenteric artery (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    dysplasie épiphysaire multiple morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    hyperphosphatasemia tarda morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    forme létale du syndrome des ptérygiums multiples (trouble) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Maternal PKU fetal effect morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Fragile X syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Jarcho-Levin syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Fetal methyl mercury syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Familial arthrogryposis-cholestatic hepatorenal syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Chondroectodermal dysplasia morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Franceschetti-Klein syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    dysplasie fronto-métaphysaire morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Weaver syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Hajdu-Cheney syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Williams syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Larsen syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Dens evaginatus morphologie associée (attribut) False Congenital malformation Inferred relationship Some 3
    Multiple malformation syndrome with unusual brain and/or neuromuscular findings morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Myxedematous form of cretinism morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with facial defects as major feature morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Cleidocranial dysostosis morphologie associée (attribut) False Congenital malformation Inferred relationship Some 4
    Fetal aminopterin syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Miller syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    Fetal trimethadione syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Sirenoform monster morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Cerebrofacial arteriovenous metameric syndrome type 2 morphologie associée (attribut) False Congenital malformation Inferred relationship Some 2
    VACTEL syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Ataxia-telangiectasia syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Limb reduction-ichthyosis syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Rothmund-Thomson syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    syndrome fœtal dû à l'hydantoïne morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Hyperthermia-induced defect morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Congenital adhesions of tongue morphologie associée (attribut) False Congenital malformation Inferred relationship Some 1
    Crooked calf syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Allemann's syndrome (disorder) morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    X-linked hydrocephalus syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Aase syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Moore-Federman syndrome morphologie associée (attribut) False Congenital malformation Inferred relationship Some
    Pena-Shokeir phenotype morphologie associée (attribut) 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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