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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
    Congenital absence of lung fissures Associated morphology False anomalie congénitale Inferred relationship Some 1
    Fusion of lobes of lung Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital talipes equinus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of oral mucosa Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ectopic oral gastrointestinal cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Talipes equinus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anosmia Associated morphology False anomalie congénitale Inferred relationship Some 1
    An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait. Associated morphology False anomalie congénitale Inferred relationship Some 1
    Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital laryngeal abductor palsy Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital laryngeal adductor palsy (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital cleft larynx Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital cystic bronchiectasis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital tracheal fistula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Infected bronchogenic cyst Associated morphology False anomalie congénitale Inferred relationship Some 3
    Cavernous hemangiomas of face and supraumbilical midline raphe Associated morphology False anomalie congénitale Inferred relationship Some 3
    Follicular ichthyosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Oral lymphangioma Associated morphology False anomalie congénitale Inferred relationship Some 3
    Localized abdominal wall skin atrophy Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of nose Associated morphology False anomalie congénitale Inferred relationship Some 2
    Pseudo-polycoria Associated morphology False anomalie congénitale Inferred relationship Some 1
    Laryngeal hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital laryngomalacia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malformation of trachea and bronchus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Primary congenital bronchomalacia Associated morphology False anomalie congénitale Inferred relationship Some 3
    Secondary congenital bronchomalacia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bronchus picus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dysplasia of lung Associated morphology False anomalie congénitale Inferred relationship Some 2
    Bronchopulmonary isomerism Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital unilateral absence of hemidiaphragm Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absent hemidiaphragm - bilateral Associated morphology False anomalie congénitale Inferred relationship Some 1
    Multiple self-healing epithelioma of Ferguson-Smith Associated morphology False anomalie congénitale Inferred relationship Some
    Unilateral segmental cavernous hemangioma Associated morphology False anomalie congénitale Inferred relationship Some 2
    B-K mole (nevus) syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Follicular atrophoderma and basal cell epitheliomata Associated morphology False anomalie congénitale Inferred relationship Some
    Ectopic tissue in lung Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of nose and nasopharynx Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormality of oral cavity Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital broncho-esophageal fistula without atresia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Laryngeal cleft type I Associated morphology False anomalie congénitale Inferred relationship Some 1
    Laryngeal cleft type II Associated morphology False anomalie congénitale Inferred relationship Some 1
    Laryngeal cleft type III Associated morphology False anomalie congénitale Inferred relationship Some 1
    Laryngeal cleft type IV Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital eventration of left crus of diaphragm (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of lower respiratory system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of nose Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of nasal sinuses Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital epulis of newborn Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital gingival granular cell tumor Associated morphology False anomalie congénitale Inferred relationship Some 2
    Microstomia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Gorham's disease Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital eventration of diaphragm Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital tracheocele Associated morphology False anomalie congénitale Inferred relationship Some 1
    Talipes calcaneovarus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital skin fragility of animals Associated morphology False anomalie congénitale Inferred relationship Some 1
    Talipes calcaneus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of bronchus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital eventration of right crus of diaphragm Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital atresia of nares Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital atresia of nares Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of trachea Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of upper respiratory system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital diverticulum of bronchus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of pleural folds Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of lung Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital emphysema (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital atresia of bronchus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of bronchus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital diverticulum of trachea Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital cyst of mediastinum Associated morphology False anomalie congénitale Inferred relationship Some 2
    Gardner syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some
    Multiple endocrine neoplasia, type 2b Associated morphology False anomalie congénitale Inferred relationship Some
    Turcot syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital dilatation of trachea Associated morphology False anomalie congénitale Inferred relationship Some 2
    Persistent tunica vasculosa lentis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Median palatal cyst Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital lobar emphysema Associated morphology False anomalie congénitale Inferred relationship Some 4
    Cerebral-retinal arteriovenous aneurysm (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Talipes equinovalgus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Talipes planovalgus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Gorlin syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital anomaly of larynx (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of diaphragm Associated morphology False anomalie congénitale Inferred relationship Some 1
    Familial multiple polyposis syndrome Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital short hard palate Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital bronchiectasis Associated morphology False anomalie congénitale Inferred relationship Some 2
    anomalie congénitale de l'appareil respiratoire Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital leptomeningeal angiomatosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of diaphragm Associated morphology False anomalie congénitale Inferred relationship Some 1
    Accessory bronchus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Abnormal lung lobation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital malposition of trachea Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital bronchomalacia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital stenosis of trachea Associated morphology False anomalie congénitale Inferred relationship Some 1
    Deformity of nasal sinus wall Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital perforation of the nasal sinus wall Associated morphology False anomalie congénitale Inferred relationship Some 1
    Agenesis of larynx, trachea and bronchus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Agenesis of bronchus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Agenesis of larynx (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of cricoid cartilage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Atresia of larynx and trachea Associated morphology False anomalie congénitale Inferred relationship Some 1

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    Reference Sets

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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