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112635002: Congenital malformation (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital malformation Is a Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Peg-shaped teeth Associated morphology False Congenital malformation Inferred relationship Some 1
    Kundrat's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Ruvalcaba syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Holoprosencephaly sequence Associated morphology False Congenital malformation Inferred relationship Some 2
    Microglossia Associated morphology False Congenital malformation Inferred relationship Some 3
    Marshall syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Nievergelt's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    MVRCS association Associated morphology False Congenital malformation Inferred relationship Some
    Hanhart's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Nager syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Thalidomide embryopathy syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Craniometaphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Retinoic acid embryopathy Associated morphology False Congenital malformation Inferred relationship Some
    Royer's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Oculodentodigital syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Fetal warfarin syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Dolichocephalic dwarfism Associated morphology False Congenital malformation Inferred relationship Some
    Facio-auriculo-vertebral spectrum Associated morphology False Congenital malformation Inferred relationship Some
    Mietens syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    De Lange syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital malformation Inferred relationship Some
    Langer-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Some 3
    Cerebro-oculo-facio-skeletal syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with limb defect as major feature Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome, small stature, without skeletal dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Kartagener syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Oto-palato-digital syndrome, type II Associated morphology False Congenital malformation Inferred relationship Some 2
    Ectopic tooth Associated morphology False Congenital malformation Inferred relationship Some 1
    Atelosteogenesis Associated morphology False Congenital malformation Inferred relationship Some
    Smith-Lemli-Opitz syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Bloom syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Rubinstein-Taybi syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Ruvalcaba-Myhre syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Robin sequence Associated morphology False Congenital malformation Inferred relationship Some
    Waardenburg's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Rieger syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Associated morphology False Congenital malformation Inferred relationship Some
    Otocephalic syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with early overgrowth Associated morphology False Congenital malformation Inferred relationship Some
    Roberts-SC phocomelia syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Duhamel's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    FG syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Osteochondrodysplasia with osteopetrosis Associated morphology False Congenital malformation Inferred relationship Some
    Grob's syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Asymmetric crying face association Associated morphology False Congenital malformation Inferred relationship Some
    Werner syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Cerebro-costo-mandibular syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Akabane virus disease Associated morphology False Congenital malformation Inferred relationship Some
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital malformation Inferred relationship Some
    Freeman-Sheldon syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Kniest dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Oto-palato-digital syndrome, type I Associated morphology False Congenital malformation Inferred relationship Some 2
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital malformation Inferred relationship Some 2
    Athyrotic hypothyroidism sequence Associated morphology False Congenital malformation Inferred relationship Some
    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
    Klippel-Trenaunay-Weber syndrome Associated morphology False Congenital malformation Inferred relationship Some 2
    Persistent omphalomesenteric artery Associated morphology False Congenital malformation Inferred relationship Some 2
    Multiple epiphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Hyperphosphatasaemia 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 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 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 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

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