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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Anomaly of lung, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Enamel pearls Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pancreas divisum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Abnormal atrioventricular connection - biventricular Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lower limb (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lack of ossification of ulna Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital flaccid paralysis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelinated nerve fibers of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Interrupted aortic arch Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cerebral cortical dysgenesis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Localized cortical dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dysplastic ovary Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lacrimal gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal atrioventricular connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital subluxation of carpus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal dysgenesis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    arthroplastie secondaire de la hanche pour correction d'une malformation congénitale Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital stenosis of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Left ventricle outflow chamber Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of arch of thoracic vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cerebral cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital arteriovenous malformation of gastrointestinal tract (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    4q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Atresia of lower vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of palatine bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Encephalocystocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    18q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Parieto-occipital craniosynostosis (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Truncal valve abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified heart anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital uraemia Associated morphology False Congenital anomaly Inferred relationship Some 1
    XXXXY syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Failure of soft tissue differentiation of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nemaline myopathy, late onset type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of skull or face bone NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Localised congenital skull defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of arch of sacral vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primordial cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Balanced rearrangement and structural marker, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of bronchus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of lumbar vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Meromicrosomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete ossification of calcaneus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital overgrowth of proximal lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of arterial valves Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nemaline myopathy, early onset type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nasal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Intrauterine amputation of lower limb (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of eye muscle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Subaortic infundibulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nodular heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sex phenotype-karyotype dissociation syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Lack of ossification of interparietal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fragile X chromosome Associated morphology False Congenital anomaly Inferred relationship Some
    Duplication of humerus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Truncal valve prolapse (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital conduction defect (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy and partial trisomy of autosome Associated morphology False Congenital anomaly Inferred relationship Some
    Other specified correction of minor congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Absent right sided atrioventricular connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ear, face and neck congenital anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Buccal bifurcation cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of larynx, trachea or bronchus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of oral cavity Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ebstein-like downward displacement of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other rib or sternum anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Linear/nevoid/zosteriform Darier's disease (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypertrophic Darier's disease (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosome inversion in normal individual Associated morphology False Congenital anomaly Inferred relationship Some
    persistance du corps vitré primitif Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of lens (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    trisomie partielle 15q Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital intrahepatic portal-systemic shunt Associated morphology False Congenital anomaly Inferred relationship Some 1
    Manus plana Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of the thymus (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Type 1 lissencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atresia of heart valve NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of clinodactyly Direct morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 3 Associated morphology False Congenital anomaly Inferred relationship Some
    Microgenia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bilateral muscular infundibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital vitreous opacity Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of abdominal wall Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple anterior segment anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lung Associated morphology False Congenital anomaly Inferred relationship Some 1
    Optic disc structural anomaly (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pulmonary artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified other anomalies of muscle, tendon and fascia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Straight back syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    True generalized microdontia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other pulmonary valve anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    21q partial trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of muscle AND/OR tendon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other lung anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    21q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Abnormal fetus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supernumerary heart valve cusps NEC Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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