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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 Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital malformation Inferred relationship Some
    Supernumerary roots Associated morphology False Congenital malformation Inferred relationship Some 2
    Multiple malformation syndrome with senile-like appearance Associated morphology False Congenital malformation Inferred relationship Some
    Trifid tongue Associated morphology False Congenital malformation Inferred relationship Some 1
    Femoral hypoplasia - unusual facies syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Melnick-Needles syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Lenz-Majewski hyperostosis syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Aarskog syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Russell-Silver syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Coffin-Lowry syndrome Associated morphology False Congenital malformation Inferred relationship Some 3
    First arch syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Congenital arteriovenous fistula of kidney Associated morphology False Congenital malformation Inferred relationship Some 1
    Complete congenital absence of teeth Associated morphology False Congenital malformation Inferred relationship Some 3
    Fibrochondrogenesis Associated morphology False Congenital malformation Inferred relationship Some
    Fetal valproate syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Fusion of teeth Associated morphology False Congenital malformation Inferred relationship Some 3
    Sclerosteosis Associated morphology False Congenital malformation Inferred relationship Some
    Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Mohr syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Mesiodens Associated morphology False Congenital malformation Inferred relationship Some 2
    Trichorhinophalangeal syndrome Associated morphology False Congenital malformation Inferred relationship Some 3
    Early urethral obstruction sequence Associated morphology False Congenital malformation Inferred relationship Some
    Schinzel-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Holt-Oram syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Cockayne syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Borjeson-Forssman-Lehmann syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Metatropic dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Congenital malformation Inferred relationship Some 1
    Levy-Hollister syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Distal arthrogryposis syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Laterality sequence Associated morphology False Congenital malformation Inferred relationship Some
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital malformation Inferred relationship Some
    Townes syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Congenital cerebral arteriovenous aneurysm (disorder) Associated morphology False Congenital malformation Inferred relationship Some 1
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital malformation Inferred relationship Some 3
    Dubowitz's syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Anodontia Associated morphology False Congenital malformation Inferred relationship Some 3
    VATER association Associated morphology False Congenital malformation Inferred relationship Some
    Inherited arthrogryposis Associated morphology False Congenital malformation Inferred relationship Some
    Melnick-Fraser syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Meckel-Gruber syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Schwartz-Jampel syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Thanatophoric dysplasia Associated morphology False Congenital malformation Inferred relationship Some
    Klippel's disease Associated morphology False Congenital malformation Inferred relationship Some
    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 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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 syndrome Associated morphology False Congenital malformation Inferred relationship Some
    Rieger syndrome Associated morphology False Congenital malformation Inferred relationship Some 1
    Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) 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 (disorder) 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 (disorder) Associated morphology False Congenital malformation Inferred relationship Some
    Bardet-Biedl 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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