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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Paramedian facial cleft - Tessier cleft 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Male with sex chromosome mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Unspecified spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Female infertility due to structural congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital corneal malformations Associated morphology False Congenital anomaly Inferred relationship Some 1
    Encephalocele of orbit Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline facial cleft - Tessier cleft 30 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Zebra body myopathy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thoracic spina bifida without mention of hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomalies NEC Associated morphology False Congenital anomaly Inferred relationship Some 3
    Keratitis ichthyosis and deafness syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Low anorectal malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anterior segment anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    14q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some
    Pigmented xerodermoid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Biliary anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Undergrowth of whole hand Associated morphology False Congenital anomaly Inferred relationship Some 1
    XXXY syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    [X]Other congenital malformations of iris Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sinus of Valsalva abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hydromyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hirschsprung's disease and allied congenital conditions Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Arrhythmogenic right ventricular dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Café-au-lait macules with temporal dysrhythmia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group G Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Irido-trabecular dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dentinogenesis imperfecta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fissure of tongue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomalies of posterior segment NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified liver and biliary system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Carpal synostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bile duct anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right ventricular outflow tract abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other upper limb and shoulder anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of larynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Punctate palmoplantar keratoderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ichthyosis hystrix of Curth-Macklin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal dermatoglyphic pattern Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persisting fifth aortic arch Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital tracheocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormal fusion of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Overgrowth of whole upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 6 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fragile X syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of eyelid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 7 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pancreas divisum - incomplete Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal alterations of group B Associated morphology False Congenital anomaly Inferred relationship Some
    Left ventricular outflow tract abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microdontia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bullous ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sectorial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ball and socket ankle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paired teeth microdontia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial multiple café-au-lait macules without neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Amyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Primary endocardial fibroelastosis of left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acrosyndactyly of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cleft larynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rotational orbital dystopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isologous chimera Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital overgrowth of distal lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atelencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent fetal uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Odontogenesis imperfecta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Optic disc vascular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida aperta of lumbar spine Associated morphology False Congenital anomaly Inferred relationship Some 3
    Syringomyelia or syringobulbia NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hearing disorder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paramedian facial cleft - Tessier cleft 1 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of camptodactyly Direct morphology False Congenital anomaly Inferred relationship Some 1
    Genetic defect of hair shaft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cyanotic congenital heart disease NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified cerebrovascular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Idiopathic congenital megacolon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Total colonic aganglionosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal fusion of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dilatation of tricuspid annulus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reconstruction of toe for macrodactyly with bone resection Direct morphology False Congenital anomaly Inferred relationship Some 2
    Correction of congenital deformity Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital overgrowth of partial lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Overgrowth of partial upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reduction deformities of brain NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Zachary operation for obstetric palsy Direct morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations of the circulatory system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other operations for clubfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    14q partial distal trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Unspecified congenital anomalies of hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blind loop syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 8 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dumbbell ossification of centrum of thoracic vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oesophageal atresia, stenosis or fistula NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of cardiac chambers and connections Associated morphology False Congenital anomaly Inferred relationship Some 1

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