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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190336012 Developmental malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190337015 Developmental defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190338013 Dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190339017 Anomalous formation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190340015 Abnormal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190341016 Malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1208681014 Developmental abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie du développement Is a anomalie congénitale false Inferred relationship Some
    anomalie du développement Is a Morphologically abnormal structure false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Talocalcaneal coalition Associated morphology False anomalie du développement Inferred relationship Some
    Longitudinal deficiency of foot Associated morphology False anomalie du développement Inferred relationship Some
    Congenital anomaly of central nervous system Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital anomaly of digestive organ (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital small optic disc with normal visual function Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital anomaly of talus Associated morphology False anomalie du développement Inferred relationship Some
    Congenital coronary artery fistula to left atrium Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital coronary artery fistula to left ventricle Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital coronary artery fistula to right atrium (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital coronary artery fistula to right ventricle Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital absence of bile duct Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of iris Associated morphology False anomalie du développement Inferred relationship Some 2
    Hypospadias Associated morphology False anomalie du développement Inferred relationship Some 1
    Hypospadias Associated morphology False anomalie du développement Inferred relationship Some 2
    Synechia vulvae Associated morphology False anomalie du développement Inferred relationship Some 2
    Incomplete anencephaly Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital absence of part of arm Associated morphology False anomalie du développement Inferred relationship Some
    Anomalous muscle bands of left ventricle Associated morphology False anomalie du développement Inferred relationship Some
    Congenital cleft hand Associated morphology False anomalie du développement Inferred relationship Some
    Congenital absence of lobe of liver Associated morphology False anomalie du développement Inferred relationship Some 2
    Uterus unicornis Associated morphology False anomalie du développement Inferred relationship Some 2
    Doubling of uterus with doubling of cervix and vagina Associated morphology False anomalie du développement Inferred relationship Some 2
    Dysplastic ovary Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital ovarian dysplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Embedded tooth Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital absence of upper limb Associated morphology False anomalie du développement Inferred relationship Some
    Uterus cordiformis Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital stricture of bile duct (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. Associated morphology False anomalie du développement Inferred relationship Some
    Female Kallman's syndrome Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital pyloric membrane Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital dislocation of knee with genu recurvatum Associated morphology False anomalie du développement Inferred relationship Some
    Congenital duplication of uterus Associated morphology False anomalie du développement Inferred relationship Some 2
    Encephalocele of orbit Associated morphology False anomalie du développement Inferred relationship Some 3
    Premature tooth eruption Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital cerebellar hypoplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Imperforate vagina Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital generalized flexion contractures of lower limb joints Associated morphology False anomalie du développement Inferred relationship Some
    Congenital absence of pelvis and lower limb Associated morphology False anomalie du développement Inferred relationship Some
    membre inférieur et pelvis absents Associated morphology False anomalie du développement Inferred relationship Some
    Cranial hydromeningocele Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital spade-like hand Associated morphology False anomalie du développement Inferred relationship Some
    Talipomanus Associated morphology False anomalie du développement Inferred relationship Some 2
    Longitudinal deficiency of humerus Associated morphology False anomalie du développement Inferred relationship Some
    Incomplete congenital absence of thigh AND leg Associated morphology False anomalie du développement Inferred relationship Some
    Paravaginal cyst arising in mesonephric duct Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital cerebellar cortical atrophy Associated morphology False anomalie du développement Inferred relationship Some 4
    Anodontie Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital absence of leg with foot AND toes Associated morphology False anomalie du développement Inferred relationship Some
    Congenital absence of uterus Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital clinodactyly Associated morphology False anomalie du développement Inferred relationship Some
    Fusion of teeth Associated morphology False anomalie du développement Inferred relationship Some 1
    Polyorchism Associated morphology False anomalie du développement Inferred relationship Some 3
    Polyorchism Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital subluxation of carpus Associated morphology False anomalie du développement Inferred relationship Some
    Mohr syndrome Associated morphology False anomalie du développement Inferred relationship Some
    Leri-Weill dyschondrosteosis Associated morphology False anomalie du développement Inferred relationship Some
    Trichorhinophalangeal syndrome Associated morphology False anomalie du développement Inferred relationship Some
    Epispadias Associated morphology False anomalie du développement Inferred relationship Some 1
    Epispadias Associated morphology False anomalie du développement Inferred relationship Some 2
    Defective development of cauda equina Associated morphology False anomalie du développement Inferred relationship Some 1
    H-type congenital tracheoesophageal fistula Associated morphology False anomalie du développement Inferred relationship Some 1
    Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre Associated morphology False anomalie du développement Inferred relationship Some 2
    A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology False anomalie du développement Inferred relationship Some
    Placenta reflexa Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital syphilitic hepatomegaly Associated morphology False anomalie du développement Inferred relationship Some 2
    Immature abnormal placenta Associated morphology False anomalie du développement Inferred relationship Some 1
    Placenta extrachorales (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    kyste cérébral congénital Associated morphology False anomalie du développement Inferred relationship Some 1
    Longitudinal absence of radius AND ulna Associated morphology False anomalie du développement Inferred relationship Some
    Accessory carpal bones Associated morphology False anomalie du développement Inferred relationship Some
    Calcaneonavicular bar Associated morphology False anomalie du développement Inferred relationship Some
    Torsion of accessory fallopian tube Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital cubitus varus Associated morphology False anomalie du développement Inferred relationship Some
    Congenital liver grooves Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital anomaly of finger (disorder) Associated morphology False anomalie du développement Inferred relationship Some
    Anisomelia Associated morphology False anomalie du développement Inferred relationship Some
    Ambiguous genitalia Associated morphology False anomalie du développement Inferred relationship Some 2
    Double uterus affecting pregnancy Associated morphology False anomalie du développement Inferred relationship Some 2
    Accessory broad ligament Associated morphology False anomalie du développement Inferred relationship Some 2
    Manus valga Associated morphology False anomalie du développement Inferred relationship Some 2
    Single coronary artery Associated morphology False anomalie du développement Inferred relationship Some 2
    Natal tooth Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital valgus deformity of foot Associated morphology False anomalie du développement Inferred relationship Some
    Uterus bilocularis Associated morphology False anomalie du développement Inferred relationship Some 2
    Phocomelia Associated morphology False anomalie du développement Inferred relationship Some
    Congenital septation of gallbladder Associated morphology False anomalie du développement Inferred relationship Some 1
    Longitudinal deficiency of phalanges of hand Associated morphology False anomalie du développement Inferred relationship Some
    Macrogyria Associated morphology False anomalie du développement Inferred relationship Some 1
    Vertical overbite Associated morphology False anomalie du développement Inferred relationship Some 3
    Multiple malformation syndrome with facial-limb defects as major feature Associated morphology False anomalie du développement Inferred relationship Some
    Congenital pes planus Associated morphology False anomalie du développement Inferred relationship Some
    Congenital stenosis of vagina Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital stenosis of vagina Associated morphology False anomalie du développement Inferred relationship Some 3
    Metatarsus adductus Associated morphology False anomalie du développement Inferred relationship Some
    Congenital dislocation of glenohumeral joint Associated morphology False anomalie du développement Inferred relationship Some
    Anomaly of dental arch (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    microsomie partielle Associated morphology False anomalie du développement Inferred relationship Some
    Placenta circumvallata Associated morphology False anomalie du développement Inferred relationship Some 1
    Iniencephaly Associated morphology False anomalie du développement Inferred relationship Some 1
    Posterior open bite Associated morphology False anomalie du développement Inferred relationship Some 3

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    Reference Sets

    Concept inactivation indicator reference set

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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