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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Some
    Developmental anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Spina bifida of cervical region Associated morphology False Developmental anomaly Inferred relationship Some 4
    Arachnoid / ependymal cyst Associated morphology False Developmental anomaly Inferred relationship Some 3
    Pulmonary atresia and ventricular septal defect with aorta from right ventricle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Notomelus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Klippel-Feil sequence Associated morphology False Developmental anomaly Inferred relationship Some 3
    Klippel-Feil sequence Associated morphology False Developmental anomaly Inferred relationship Some 4
    Absent pulmonary valve syndrome with ventricular septal defect of non Fallot type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Benign congenital hypotonia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lip hypertrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ventricular septal defect due to and following infective endocarditis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital bent rib Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital muscular dystrophy with arthrogryposis multiplex congenita Associated morphology False Developmental anomaly Inferred relationship Some 3
    Diplopodia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Transverse deficiency of arm, forearm level Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of nose Associated morphology False Developmental anomaly Inferred relationship Some 2
    Beaked pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of lacrimal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Syringomyelobulbia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital corneal opacity not interfering with vision Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital trigger thumb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Trabecular dysgenesis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malposition of radius Associated morphology False Developmental anomaly Inferred relationship Some 2
    Rotated penis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ash leaf spot, tuberous sclerosis Associated morphology False Developmental anomaly Inferred relationship Some 4
    Lack of ossification of calcaneus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital inversion of nipple Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital articular rigidity with myopathy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Eichsfeld type congenital muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Von Hippel-Lindau syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Post-infarction ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of fibula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Prepapillary vascular loop (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Prepapillary vascular loop (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Undescended testes - bilateral Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital overgrowth of foot Associated morphology False Developmental anomaly Inferred relationship Some 2
    Patent ductus arteriosus - persisting type Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of lacrimal drainage system (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital ectropion Associated morphology False Developmental anomaly Inferred relationship Some 2
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Developmental anomaly Inferred relationship Some 4
    X-linked limb girdle muscular dystrophy with normal dystrophin Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital protrusion of tongue Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cryptophthalmos (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Madelung's deformity Associated morphology False Developmental anomaly Inferred relationship Some 2
    Mondini defect (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dolichocolon Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital elevation of scapula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of rib Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete ossification of clavicle Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hooded penis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Neuroenteric cyst Associated morphology False Developmental anomaly Inferred relationship Some 2
    Embryonal nuclear cataract Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital hyperplasia of muscle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Accessory liver Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of clitoris Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital diverticulum of trachea Associated morphology False Developmental anomaly Inferred relationship Some 2
    Syringobulbia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital eventration of diaphragm Associated morphology False Developmental anomaly Inferred relationship Some 2
    Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital overgrowth of whole lower limb (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of nervous system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of femur Associated morphology False Developmental anomaly Inferred relationship Some 2
    Patent ductus arteriosus with normal origin and insertion (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Atresia and stenosis of large intestine, rectum and anal canal Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital cataract and lens anomalies Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dysplasia of lung Associated morphology False Developmental anomaly Inferred relationship Some 3
    Myotubular myopathy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Pulmonary atresia and ventricular septal defect with aorta from left ventricle (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Supernumerary canaliculus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital myopathy with fibre type disproportion Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ventricular septal defect with malaligned outlet septum to left Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 4
    Spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 5
    Straight back syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of skeletal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital tracheal collapse (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Duplication of whole limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Rubella cataract Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hemimyelia Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital synostosis of lower limb bones (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Failure of soft tissue differentiation of lower limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Perimembranous ventricular septal defect with extension to all right ventricular components Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital melanosis of sclera Associated morphology False Developmental anomaly Inferred relationship Some 3
    Henck-Assman disease Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bronchopulmonary isomerism Associated morphology False Developmental anomaly Inferred relationship Some 2
    Preauricular sinus and fistula Associated morphology False Developmental anomaly Inferred relationship Some 6
    Peters plus syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital fold and cyst of posterior segment of eye (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Neuronal choristoma (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Riedel's lobe of liver Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital bent scapula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right bronchial isomerism (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of lower limb (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Meningoencephalocele Associated morphology False Developmental anomaly Inferred relationship Some 3
    Distichiasis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Craniorachischisis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital arthrogryposis caused by teratogen (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Retinal arteriovenous malformation Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of choroid Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital diaphragmatic hernia Associated morphology False Developmental anomaly Inferred relationship Some 5

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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