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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
    Congenital anomaly of upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of gallbladder Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomalies of peripheral arteries Associated morphology False anomalie congénitale Inferred relationship Some 1
    Venous valvular anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital umbilical defect Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of tibial pseudoarthrosis by free fibula graft Direct morphology False anomalie congénitale Inferred relationship Some 2
    Miller Dieker syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malformation of the meninges Associated morphology False anomalie congénitale Inferred relationship Some 1
    Aplasia of part of brain NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of part of brain NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Double eyebrow Associated morphology False anomalie congénitale Inferred relationship Some 1
    Embryotoxon (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ambiguous atrioventricular connection Associated morphology False anomalie congénitale Inferred relationship Some 1
    Right sided atrium connecting to ventricle of indeterminate morphology Associated morphology False anomalie congénitale Inferred relationship Some 1
    Absent right superior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormality of left atrial appendage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Tricuspid annulus hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital right ventricular diverticulum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of left ventricular inflow tract Associated morphology False anomalie congénitale Inferred relationship Some 1
    Accessory tissue on aortic valve cusp Associated morphology False anomalie congénitale Inferred relationship Some 1
    Aorta to right ventricle tunnel Associated morphology False anomalie congénitale Inferred relationship Some 1
    Coronary artery runs between aorta and pulmonary trunk Associated morphology False anomalie congénitale Inferred relationship Some 1
    Malformation of throat Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital displacement of gastric mucosa Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hyperganglionosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital parameatal cyst Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of fibula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pseudotrisomy 18 Associated morphology False anomalie congénitale Inferred relationship Some
    Triploidy and polyploidy Associated morphology False anomalie congénitale Inferred relationship Some
    Deletion of part of autosome Associated morphology False anomalie congénitale Inferred relationship Some
    Sex chromosome abnormality - male phenotype Associated morphology False anomalie congénitale Inferred relationship Some
    FRAXA Associated morphology False anomalie congénitale Inferred relationship Some
    Xeroderma pigmentosum, group C (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mullerian remnant Associated morphology False anomalie congénitale Inferred relationship Some 1
    11p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Stabilization of hypoplastic thumb Direct morphology False anomalie congénitale Inferred relationship Some 2
    Other correction of congenital deformity of foot NOS Direct morphology False anomalie congénitale Inferred relationship Some 1
    Correction of minor congenital deformity of foot Direct morphology False anomalie congénitale Inferred relationship Some 1
    Retinal hemangioblastomatosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital failure of eye elevation Associated morphology False anomalie congénitale Inferred relationship Some 1
    perte en longueur de l'arcade dentaire à la suite de caries dentaires Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of genital system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Periventricular leucomalacia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of fibula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duane's syndrome, type 1 Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thoracic spina bifida with hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    Anomalies of hypothalamus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other great vein anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of cerebral vessel, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital fissure of epiglottis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other lung agenesis, hypoplasia or dysplasia NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other tongue anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified esophageal anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified esophageal anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Unspecified anomalies of stomach Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other anomalies of intestine Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomaly of gallbladder Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hydatid cyst of Morgagni - male Associated morphology False anomalie congénitale Inferred relationship Some 1
    Scaphoid-lunate synostosis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Proximal interphalangeal joint symphalangism Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of spine, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Whole chromosome trisomy, meiotic nondisjunction Associated morphology False anomalie congénitale Inferred relationship Some
    Partial trisomy syndromes Associated morphology False anomalie congénitale Inferred relationship Some
    Hypoplasia of spleen (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of thymus gland NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of posterior segment of eye Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Congenital malformations of the urinary system Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of breast Associated morphology False anomalie congénitale Inferred relationship Some 1
    17p partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Low assimilation pelvis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Fetus papyraceous Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of claw Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of forepaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal fusion of carpal bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal fusion of presphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of basisphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of supraoccipital bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of basioccipital bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of pubis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital branched rib Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital blepharophimosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of palatine bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of parietal bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of rib Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hypoplasia of forepaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypoplasia of presphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital malposition of claw Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital thickening of humerus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dumbbell ossification of centrum of caudal vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dumbbell ossification of centrum of lumbar vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of centrum of cervical vertebra (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of forepaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of presphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of rib Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of auditory ossicles Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of centrum of sacral vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Tetrasomy 12p syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of joint Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of jaw 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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