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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
    Congenital anomaly of respiratory system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified lung agenesis, hypoplasia or dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double inlet left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left sided atrium connecting to both ventricles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified endocrine gland anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of scapula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital enlarged kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of maxilla Associated morphology False Congenital anomaly Inferred relationship Some 1
    Interrupted aortic arch between left subclavian and left common carotid artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of penis NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double inlet right ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Juvenile pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lower respiratory system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sjögren-Larsson syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 2 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 12 Associated morphology False Congenital anomaly Inferred relationship Some
    Faun tail syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 22 Associated morphology False Congenital anomaly Inferred relationship Some
    Criss-cross heart Associated morphology False Congenital anomaly Inferred relationship Some 1
    Papyraceous fetus - not delivered Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital generalised flexion contractures of lower limb joints Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete ossification of exoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Defect of telencephalic division Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of breast Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lung agenesis, hypoplasia or dysplasia NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Redundant prepuce Associated morphology False Congenital anomaly Inferred relationship Some 1
    Triphalangeal great toe Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital heart anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal relationship of right ventricle to left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of metatarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Digestive system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Female Kallman's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bilateral deficient infundibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Agenesis of bronchus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Palmar pitting due to Darier disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of external ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Failure of differentiation of bones of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of corpus callosum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 4 Associated morphology False Congenital anomaly Inferred relationship Some
    Nail dystrophy due to Darier's disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Xeroderma pigmentosum, group A Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reduction anomaly of hypothalamus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of alisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital thread-like tail Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of caudal vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Specified anomalies of choroid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 11 Associated morphology False Congenital anomaly Inferred relationship Some
    Interrupted aortic arch distal to left subclavian artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Triploidy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Nervous system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of rib Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of frontal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital renal failure Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of relationship of cardiac component Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus subseptus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of great veins, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of liver and/or gallbladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal atrioventricular connection - univentricular Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of metacarpal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 10 Associated morphology False Congenital anomaly Inferred relationship Some
    Wolffian duct cyst - female Associated morphology False Congenital anomaly Inferred relationship Some 1
    20p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Agyria Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal relationship of aortic orifice to pulmonary orifice Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified anomaly of ureter Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of lower limb bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other dwarfing syndromes NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 10 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Other congenital upper alimentary tract anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal dominant familial woolly hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital flexion contracture of knee Associated morphology False Congenital anomaly Inferred relationship Some 1
    Symmetrical dyschromatosis of extremities Associated morphology False Congenital anomaly Inferred relationship Some 2
    Neuroenteric cyst and associated malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy, mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Branchial cleft cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ectopic liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital nuclear ophthalmoplegia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of rectum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Euryblepharon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 22 Associated morphology False Congenital anomaly Inferred relationship Some
    Unspecified nervous system anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    19q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital vesicoureterorenal reflux Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple pterygium syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Von Hippel-Lindau syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital laryngeal adductor palsy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital disorders of eye and eyelid movements Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of frontal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Humeroradial synostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uterus biforis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified anomaly of the great veins, NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital focal enlargement of rib Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pancreatic duct anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    16p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Indeterminate ventricular outflow tract obstruction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single tooth microdontia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of lacrimal passages NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Interrupted aortic arch between left common carotid and brachiocephalic artery Associated morphology False Congenital anomaly Inferred relationship Some 1

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