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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
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Supernumerary roots Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Multiple malformation syndrome with senile-like appearance Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Trifid tongue Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Femoral hypoplasia - unusual facies syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Melnick-Needles syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Lenz-Majewski hyperostosis syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Aarskog syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Russell-Silver syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Coffin-Lowry syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    First arch syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Congenital arteriovenous fistula of kidney Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Complete congenital absence of teeth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Fibrochondrogenesis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Fetal valproate syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Fusion of teeth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Sclerosteosis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Child syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Mohr syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Supernumerary mesiodens tooth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Trichorhinophalangeal syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Early urethral obstruction sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Schinzel-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Holt-Oram syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Cockayne syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Borjeson-Forssman-Lehmann syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Metatropic dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Levy-Hollister syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Distal arthrogryposis syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Laterality sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Townes syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Congenital cerebral arteriovenous aneurysm Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Dubowitz's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Anodontia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Inherited arthrogryposis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Melnick-Fraser syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Meckel-Gruber syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Schwartz-Jampel syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Thanatophoric dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Klippel's disease Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Peg-shaped teeth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Kundrat's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Ruvalcaba syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Holoprosencephaly sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Microglossia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Marshall syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Nievergelt's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    MVRCS association Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Hanhart's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Nager syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Thalidomide embryopathy syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Craniometaphyseal dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Retinoic acid embryopathy Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Royer's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Oculodentodigital syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Fetal warfarin syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Dolichocephalic dwarfism Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Facio-auriculo-vertebral spectrum Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Mietens syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    De Lange syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Langer-Giedion syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 3
    Cerebro-oculo-facio-skeletal syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Multiple malformation syndrome with limb defect as major feature Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Multiple malformation syndrome, small stature, without skeletal dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Kartagener syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Oto-palato-digital syndrome, type II Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Ectopic tooth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Atelosteogenesis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Smith-Lemli-Opitz syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Bloom syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Rubinstein-Taybi syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Ruvalcaba-Myhre syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Robin sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Waardenburg syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Rieger syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Otocephalic syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Multiple malformation syndrome with early overgrowth Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Roberts-SC phocomelia syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Duhamel's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    FG syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Osteochondrodysplasia with osteopetrosis Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Grob's syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Asymmetric crying face association Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Werner syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Cerebro-costo-mandibular syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Akabane virus disease Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Freeman-Sheldon syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Oral-facial-digital syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 1
    Kniest dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Oto-palato-digital syndrome, type I Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier 2
    Athyrotic hypothyroidism sequence Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier
    Bardet-Biedl syndrome Associated morphology False Congenital malformation Inferred relationship Existential restriction modifier

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