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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    280471000077112 anomalie congénitale 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 congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Lung agenesis, hypoplasia and dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Inverted pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 2 Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital abnormality of atria and atrial septum Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Congenital malformation of circulatory system, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incontinentia pigmenti syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Trisomy X syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Sacral spina bifida with hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    Pulmonary trunk atresia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital commissural pits Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duane syndrome with vertical deviation (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other specified ear anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Keratolysis exfoliativa Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of tongue Associated morphology False anomalie congénitale Inferred relationship Some 1
    A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Associated morphology False anomalie congénitale Inferred relationship Some
    Coronary sinus defect in left atrium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of alisphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital fecaliths causing obstruction (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomaly of adrenal gland NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Midline cervical cleft (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital thickening of tarsal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida with hydrocephalus - closed NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    Separation of tarsal coalition Direct morphology False anomalie congénitale Inferred relationship Some 1
    Hyperplastic tooth follicle Associated morphology False anomalie congénitale Inferred relationship Some 3
    Bicornuate uterus - baby delivered with postpartum complication Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of liver and/or biliary tract (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bilateral atria Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other specified congenital malformations of peripheral vascular system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Atresia of urethra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cutis laxa, autosomal dominant Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital retrognathism (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of thorax Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomalies of pancreas NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    [X]Other specified congenital malformations of respiratory system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thoracic spina bifida with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital pulmonary venous atrium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified congenital hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 2
    A rare genetic developmental and neurological disorder characterised by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia. Associated morphology False anomalie congénitale Inferred relationship Some 1
    Harlequin fetus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Whole chromosome monosomy - meiotic nondisjunction Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of cardiovascular structure of trunk Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hydrocalicosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Uterus acollis Associated morphology False anomalie congénitale Inferred relationship Some 1
    12q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Jaw congenital deformities Associated morphology False anomalie congénitale Inferred relationship Some 1
    Defect of skull ossification Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified brain anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lumbar spina bifida with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Pulmonary trunk hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomalies of fingers Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of epidermal appendages Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thoracolumbar spina bifida with hydrocephalus - closed (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Dentate dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other endocrine gland anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Fissured spine with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of myocardium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other liver or biliary system anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hypoplasia of epididymis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Olive dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital systemic venous atrium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Splenoportal vascular anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dysgenesis of the brainstem Associated morphology False anomalie congénitale Inferred relationship Some 1
    Prune belly syndrome Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital abnormality of lacrimal drainage system (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of nipple Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of endocrine testis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Vascular neurocutaneous syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified digestive system anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Eustachian tube anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Embedded tooth Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Balanced coronary system Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other specified congenital malformations of urinary system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital ichthyosis, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of brain gyri Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital thickening of fibula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cranial dysostosis NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of parathyroid gland NEC NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of lung Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Congenital malformation of bony thorax, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Klinefelter's syndrome XXXXY Associated morphology False anomalie congénitale Inferred relationship Some
    Other anomalies of uterus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital accessory skin tag Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other undergrowth of limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Conditions due to anomaly of unspecified chromosome NOS Associated morphology False anomalie congénitale Inferred relationship Some
    Posterior embryotoxon (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of tongue Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of mandible Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital leukonychia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital heart anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital thickening of ilium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Closed spina bifida with Arnold-Chiari malformation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duane's syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    12p partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Glycogenosis with glucoaminophosphaturia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital postural curvature of spine NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified anomaly of cartilage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Major partial trisomy Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of gastrointestinal tract Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bipartite ossification of interparietal bone Associated morphology False anomalie congénitale Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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