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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 (morphologic abnormality) false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Genetic defect of hair shaft (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Tetralogy of Fallot Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cyanotic congenital heart disease NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified cerebrovascular anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    megacolôn congénital idiopathique Associated morphology False anomalie congénitale Inferred relationship Some 1
    Total colonic aganglionosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormal fusion of supraoccipital bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Dilatation of tricuspid annulus (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False anomalie congénitale Inferred relationship Some 2
    Correction of congenital deformity Direct morphology False anomalie congénitale Inferred relationship Some 1
    Congenital overgrowth of partial lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Overgrowth of partial upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Reduction deformities of brain NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Zachary operation for obstetric palsy (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    [X]Congenital malformations of the circulatory system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other operations for clubfoot Direct morphology False anomalie congénitale Inferred relationship Some 1
    14q partial distal trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Unspecified congenital anomalies of hair Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital blind loop syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 8 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Branchial cleft Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dumbbell ossification of centrum of thoracic vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Esophageal atresia, stenosis or fistula NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of cardiac chambers and connections Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital posterior polar cataract Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida with hydrocephalus, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 2
    Retrosternal thyroid gland Associated morphology False anomalie congénitale Inferred relationship Some 1
    Posteromedial muscle band Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of radius Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pentalogy of Fallot (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Dwarf pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anterior chamber cleavage syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Specified breast anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Midline facial cleft - Tessier cleft 14 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 15 Associated morphology False anomalie congénitale Inferred relationship Some
    Other upper limb and shoulder anomaly OS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of clinodactyly with reversed wedge osteotomy Direct morphology False anomalie congénitale Inferred relationship Some 2
    Infantile malignant osteopetrosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    FRAXE Associated morphology False anomalie congénitale Inferred relationship Some
    Assimilation pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Enamel spur Associated morphology False anomalie congénitale Inferred relationship Some 2
    Crouzon syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    XXYY syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of digestive organ Associated morphology False anomalie congénitale Inferred relationship Some 1
    Supramitral left atrial ring Associated morphology False anomalie congénitale Inferred relationship Some 1
    Limb reduction-ichthyosis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Rudimentary patella Associated morphology False anomalie congénitale Inferred relationship Some 2
    Coffin-Lowry syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Agenesis of nerve, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Severe ichthyoses Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unilateral unstable hip Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of clinodactyly with closing wedge osteotomy Direct morphology False anomalie congénitale Inferred relationship Some 2
    Mandibular retrognathism Associated morphology False anomalie congénitale Inferred relationship Some 2
    Reduction of gigantism of hand Direct morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormality of nipple Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other specified congenital malformations of spinal cord Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital retinal fold Associated morphology False anomalie congénitale Inferred relationship Some 1
    Left ventricular hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    L'Episcopo operation for obstetric palsy (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    4q partial monosomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Left atrial appendage absent Associated morphology False anomalie congénitale Inferred relationship Some 1
    Polyploidy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Complete situs inversus with dextrocardia (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other specified stomach anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    21q partial distal trisomy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Ear auricle and external auditory canal absent Associated morphology False anomalie congénitale Inferred relationship Some 1
    Complete trisomy 22 syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Poly Y syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Reticulate pigmented anomaly of flexures Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bifid scrotum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ulegyria Associated morphology False anomalie congénitale Inferred relationship Some 1
    Gallbladder anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital redundant colon Associated morphology False anomalie congénitale Inferred relationship Some 1
    Reduction deformities of brain Associated morphology False anomalie congénitale Inferred relationship Some 1
    Retrognathism NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital heart disease, septal and bulbar anomalies (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Undergrowth of partial upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dumbbell ossification of centrum of sacral vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Specified optic disc anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hypoplasia of pancreas Associated morphology False anomalie congénitale Inferred relationship Some 2
    Paravaginal cyst arising in mesonephric duct Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital brain damage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malposition of forepaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 2
    Atypical ichthyosis vulgaris with hypogonadism Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital cystic bronchiectasis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified congenital eyelid anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Gingival cyst of neonate (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Paramedian facial cleft - Tessier cleft 2 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified anterior segment anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dumbbell-shaped cartilaginous centrum of thoracic vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital eyelid deformity NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Gallbladder anomaly, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Branchial cleft anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of aortic arch AND/OR descending aorta (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified congenital eyelid anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of coronary artery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Osteotomy of body of os calcis for correction congenital deformity of foot Direct morphology False anomalie congénitale Inferred relationship Some 2
    [X]Other branchial cleft malformations Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital epiblepharon-inferior oblique syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital bowing of tibia, fibula and femur Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ebstein's anomaly Associated morphology False anomalie congénitale 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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