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21390004: Developmental anomaly (morphologic abnormality)


    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1208681014 Developmental abnormality en Synonym Active Case insensitive SNOMED CT core
    183282017 Developmental anomaly en Synonym Active Case insensitive SNOMED CT core
    190336012 Developmental malformation en Synonym Active Case insensitive SNOMED CT core
    190337015 Developmental defect en Synonym Active Case insensitive SNOMED CT core
    190338013 Dysgenesis en Synonym Active Case insensitive SNOMED CT core
    190339017 Anomalous formation en Synonym Active Case insensitive SNOMED CT core
    190340015 Abnormal development en Synonym Active Case insensitive SNOMED CT core
    190341016 Malformation en Synonym Active Case insensitive SNOMED CT core
    750678013 Developmental anomaly (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
    Developmental abnormality Is a Morphologically abnormal structure false Inferred relationship Some
    Developmental abnormality Is a Congenital anomaly false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital cerebellar hypoplasia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Imperforate vagina Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital generalised flexion contractures of lower limb joints Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of pelvis and lower limb Associated morphology False Developmental abnormality Inferred relationship Some
    Absent pelvis and lower limb Associated morphology False Developmental abnormality Inferred relationship Some
    Cranial hydromeningocele Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital spade-like hand Associated morphology False Developmental abnormality Inferred relationship Some
    Talipomanus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Longitudinal deficiency of humerus Associated morphology False Developmental abnormality Inferred relationship Some
    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Ectodermal dysplasia trichoodontoonychial type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Intermediate anorectal malformation Associated morphology False Developmental abnormality Inferred relationship Some 1
    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Incomplete congenital absence of thigh AND leg Associated morphology False Developmental abnormality Inferred relationship Some
    Ectodermal dysplasia trichoodontoonychial type Associated morphology False Developmental abnormality Inferred relationship Some 4
    SCARF syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Paravaginal cyst arising in mesonephric duct Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital cerebellar cortical atrophy Associated morphology False Developmental abnormality Inferred relationship Some 4
    Complete congenital absence of teeth Associated morphology False Developmental abnormality Inferred relationship Some 4
    SCARF syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital absence of leg with foot AND toes Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of uterus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital clinodactyly Associated morphology False Developmental abnormality Inferred relationship Some
    Fusion of teeth Associated morphology False Developmental abnormality Inferred relationship Some 1
    Polyorchism Associated morphology False Developmental abnormality Inferred relationship Some 3
    Polyorchism Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital subluxation of carpus Associated morphology False Developmental abnormality Inferred relationship Some
    Mohr syndrome Associated morphology False Developmental abnormality Inferred relationship Some
    Leri-Weill dyschondrosteosis Associated morphology False Developmental abnormality Inferred relationship Some
    Trichorhinophalangeal syndrome Associated morphology False Developmental abnormality Inferred relationship Some
    Epispadias Associated morphology False Developmental abnormality Inferred relationship Some 1
    Epispadias Associated morphology False Developmental abnormality Inferred relationship Some 2
    Deafness, vitiligo, achalasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Defective development of cauda equina Associated morphology False Developmental abnormality Inferred relationship Some 1
    H-type congenital tracheo-oesophageal fistula Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital anomaly of bone of shoulder girdle Associated morphology False Developmental abnormality Inferred relationship Some 1
    Ovotestis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Holt-Oram syndrome Associated morphology False Developmental abnormality Inferred relationship Some
    Placenta reflexa Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital syphilitic hepatomegaly Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital mandibular asymmetry Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital maxillary asymmetry Associated morphology False Developmental abnormality Inferred relationship Some 1
    Immature abnormal placenta Associated morphology False Developmental abnormality Inferred relationship Some 1
    Developmental anomaly of root of tooth Associated morphology False Developmental abnormality Inferred relationship Some 1
    Placenta extrachorales Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital cerebral cyst Associated morphology False Developmental abnormality Inferred relationship Some 1
    Longitudinal absence of radius AND ulna Associated morphology False Developmental abnormality Inferred relationship Some
    Accessory carpal bones Associated morphology False Developmental abnormality Inferred relationship Some
    Fetal genitourinary abnormality Associated morphology False Developmental abnormality Inferred relationship Some 2
    Fetal genitourinary abnormality Associated morphology False Developmental abnormality Inferred relationship Some 3
    Calcaneonavicular bar Associated morphology False Developmental abnormality Inferred relationship Some
    Torsion of accessory fallopian tube Associated morphology False Developmental abnormality Inferred relationship Some 2
    Malformation of central nervous system of fetus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Malformation of central nervous system of fetus Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital cubitus varus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital liver grooves Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of finger Associated morphology False Developmental abnormality Inferred relationship Some
    Anisomelia Associated morphology False Developmental abnormality Inferred relationship Some
    Juvenile osteochondrosis of right tarsal navicular Associated morphology False Developmental abnormality Inferred relationship Some 5
    Juvenile osteochondrosis of left tarsal navicular Associated morphology False Developmental abnormality Inferred relationship Some 5
    Juvenile osteochondrosis of right second metatarsal Associated morphology False Developmental abnormality Inferred relationship Some 4
    Juvenile osteochondrosis of left second metatarsal Associated morphology False Developmental abnormality Inferred relationship Some 5
    Ambiguous genitalia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Double uterus affecting pregnancy Associated morphology False Developmental abnormality Inferred relationship Some 2
    PIK3CA related overgrowth syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital conductive hearing loss Associated morphology False Developmental abnormality Inferred relationship Some 3
    Bilateral congenital trigger thumb of hand Associated morphology False Developmental abnormality Inferred relationship Some 2
    Bilateral congenital trigger thumb of hand Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital trigger finger of right hand Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital trigger finger of left hand Associated morphology False Developmental abnormality Inferred relationship Some 1
    Accessory broad ligament Associated morphology False Developmental abnormality Inferred relationship Some 2
    Developmental anomaly of tooth Associated morphology False Developmental abnormality Inferred relationship Some 1
    Developmental anomaly of periodontal tissue Associated morphology False Developmental abnormality Inferred relationship Some 1
    Manus valga Associated morphology False Developmental abnormality Inferred relationship Some 2
    Single coronary artery Associated morphology False Developmental abnormality Inferred relationship Some 2
    Natal tooth Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital valgus deformity of foot Associated morphology False Developmental abnormality Inferred relationship Some
    Uterus bilocularis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Phocomelia Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital septation of gallbladder Associated morphology False Developmental abnormality Inferred relationship Some 1
    Longitudinal deficiency of phalanges of hand Associated morphology False Developmental abnormality Inferred relationship Some
    Macrogyria Associated morphology False Developmental abnormality Inferred relationship Some 1
    Vertical overbite Associated morphology False Developmental abnormality Inferred relationship Some 3
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital pes planus Associated morphology False Developmental abnormality Inferred relationship Some
    Pseudovaginal perineoscrotal hypospadias Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital stenosis of vagina Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital stenosis of vagina Associated morphology False Developmental abnormality Inferred relationship Some 3
    Metatarsus adductus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital dislocation of shoulder Associated morphology False Developmental abnormality Inferred relationship Some
    Anomaly of dental arch Associated morphology False Developmental abnormality Inferred relationship Some 2
    Meromicrosomia Associated morphology False Developmental abnormality Inferred relationship Some
    Placenta circumvallata Associated morphology False Developmental abnormality Inferred relationship Some 1
    Iniencephaly Associated morphology False Developmental abnormality Inferred relationship Some 1
    Posterior open bite Associated morphology False Developmental abnormality Inferred relationship Some 3
    Retinitis pigmentosa-deafness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Retinitis pigmentosa-deafness-ataxia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Gorlin-Chaudhry-Moss syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Oculo-palato-digital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Oculo-palato-digital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Usher syndrome type 1 Associated morphology False Developmental abnormality Inferred relationship Some 2

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