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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
    Absence of inferior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 2
    Keratosis pilaris with ichthyosis and deafness Associated morphology False anomalie congénitale Inferred relationship Some 2
    Primary congenital bronchomalacia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ebstein's anomaly with atrial septal defect Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital diverticulum of lacrimal canaliculus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Biliary malformation associated with renal tubular insufficiency Associated morphology False anomalie congénitale Inferred relationship Some 2
    Tricuspid valve prolapse Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of inferior vena cava (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Stenosis of systemic to pulmonary artery collateral artery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Absence of superior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 2
    Patent ductus venosus Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of tongue Associated morphology False anomalie congénitale Inferred relationship Some 3
    Duplication of tibia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cleft leaflet of mitral valve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital lacrimal fistula Associated morphology False anomalie congénitale Inferred relationship Some 2
    Aortic valve dysplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Persistent tuberculum impar Associated morphology False anomalie congénitale Inferred relationship Some 4
    Mixed gonadal dysgenesis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Accessory tissue on tricuspid leaflet Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of oviduct Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ankyloblepharon filiforme adnatum (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Epitheliogenesis imperfecta lingua bovis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other congenital anomalies of upper leg Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hypoplasia of tricuspid valve Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital abnormality of lower limb and pelvic girdle (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital pectus excavatum (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cervical spina bifida with hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 7
    [X]Congenital malformation of tricuspid valve, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Axillary freckling due to neurofibromatosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Lack of ossification of tympanic anulus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Quadricuspid aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Mesenteric cyst Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital tricuspid atresia or stenosis NOS Associated morphology False anomalie congénitale Inferred relationship Some 3
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 4
    [X]Other congenital malformations of diaphragm Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of mandible Associated morphology False anomalie congénitale Inferred relationship Some 2
    Longitudinal deficiency of phalanges of foot Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of tongue Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital gastrointestinal-urinary tract fistula Associated morphology False anomalie congénitale Inferred relationship Some 1
    Craniofacial microsomia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Fallopian tube and broad ligament anomalies, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lobulated tongue Associated morphology False anomalie congénitale Inferred relationship Some 1
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Supernumerary lacrimal punctum Associated morphology False anomalie congénitale Inferred relationship Some 1
    L - transposition of the great vessels (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of whole lower limb Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pili torti-deafness syndrome Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of face bones Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ductus venosus abnormality Associated morphology False anomalie congénitale Inferred relationship Some 1
    Female epispadias (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital absence of both testes (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Other fallopian tube and broad ligament anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Duplication of lower limb Associated morphology False anomalie congénitale Inferred relationship Some 2
    Deep hemangioma of skin Associated morphology False anomalie congénitale Inferred relationship Some 5
    Accessory tissue on aortic valve cusp Associated morphology False anomalie congénitale Inferred relationship Some 1
    Multiple neurofibromas in neurofibromatosis (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 3
    Agenesis of nasolacrimal duct Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anterior perimaxillary faciosynostosis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of rib cartilage Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sacral spina bifida with hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 6
    Neurofibromatosis type 1 Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital stenosis of tricuspid valve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Myxoid transformation of tricuspid valve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital fissure of tongue Associated morphology False anomalie congénitale Inferred relationship Some 2
    Abnormal palmar creases Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital tracheomalacia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 7
    Hydromyelocele with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 6
    [X]Other phakomatoses, not elsewhere classified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Exencephaly Associated morphology False anomalie congénitale Inferred relationship Some 3
    Exencephaly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital ectropion Associated morphology False anomalie congénitale Inferred relationship Some 4
    Congenital fissure of epiglottis Associated morphology False anomalie congénitale Inferred relationship Some 3
    Elephantiasis neurofibromatosa (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other fallopian tube or broad ligament anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Absent right superior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 2
    Swan's syndrome II Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital eyelid deformity NOS Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital synostosis of lower limb bones Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of superior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital pulmonary venous atrium Associated morphology False anomalie congénitale Inferred relationship Some 2
    Cervical spina bifida with hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 7
    Papillon-Lefèvre syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital entropion Associated morphology False anomalie congénitale Inferred relationship Some 1
    Microgenia Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital dilatation of subclavian artery Associated morphology False anomalie congénitale Inferred relationship Some 3
    Incomplete ossification of mandible Associated morphology False anomalie congénitale Inferred relationship Some 1
    Triploidy, diploidy, mixoploidy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. Associated morphology False anomalie congénitale Inferred relationship Some 2
    13q partial trisomy syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Branchial vestige Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital mandibular hyperplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False anomalie congénitale Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False anomalie congénitale Inferred relationship Some 4
    Iniencephaly - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    Iniencephaly - open Associated morphology False anomalie congénitale Inferred relationship Some 2
    Iniencephaly - open Associated morphology False anomalie congénitale Inferred relationship Some 3
    Iniencephaly - open Associated morphology False anomalie congénitale Inferred relationship Some 4
    Thoracic spina bifida with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracic spina bifida with hydrocephalus Associated morphology False anomalie congénitale Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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