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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

    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 anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Thoracic spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lissencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single congenital cerebral cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple congenital cerebral cysts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of Eustachian tube Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of eustachian tube Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital deformity of spine Associated morphology False Congenital anomaly Inferred relationship Some 2
    Trisomy 21- meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Trisomy 13, meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 18 - meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some 2
    Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Monosomy and deletion from autosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion seen only at prometaphase Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome monosomy - meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Monosomy 21, mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Major partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Minor partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication seen only at prometaphase Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication with other complex rearrangement Associated morphology False Congenital anomaly Inferred relationship Some 1
    Extra marker chromosomes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosome inversion in normal individual Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced autosomal rearrangement in abnormal individual Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False Congenital anomaly Inferred relationship Some 1
    Individual with marker heterochromatin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Individual with autosomal fragile site Associated morphology False Congenital anomaly Inferred relationship Some 1
    Karyotype 46, X iso (Xq) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter syndrome, male with 46,XX karyotype (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chimera 46, XX; 46, XY Associated morphology False Congenital anomaly Inferred relationship Some 1
    46, XX true hermaphrodite Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fragile X chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cyst of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Some 2
    Carpenter's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinobulbar atrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectopic thyroid tissue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypothyroidism with ectopic thyroid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital mandibular asymmetry Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital horizontal mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital vertical mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital transverse mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital alveolar hyperplasia of mandible (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital horizontal mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital vertical mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital transverse mandibular hypoplasia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital alveolar hypoplasia of mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    21q partial distal trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    21q partial trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypomyelinating neuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Late congenital syphilitic polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Late secondary abnormalities of the central nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multicystic encephalomalacia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Periventricular leucomalacia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuronal choristoma Associated morphology False Congenital anomaly Inferred relationship Some 1
    General fibrosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Strabismus fixus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vertical retraction syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital cholesteatoma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Structural anomaly of the cochlea and vestibular labyrinth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete formation of bony cochlea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mondini defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dilatation of the vestibular aqueduct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dilatation of semicircular canal Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calcific aortic stenosis - bicuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Vascular neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Vascular neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Parkes Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diffuse arteriovenous fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Arthrogryposis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sjögren-Larsson syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    8q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Associated morphology False Congenital anomaly Inferred relationship Some 3
    Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome X Associated morphology False Congenital anomaly Inferred relationship Some 1
    Total anomalous pulmonary venous return Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hydromyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Morning glory disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bicuspid doming of aortic cusp (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Neural tube defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neural tube defect Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hemimyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hemimyelocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. Associated morphology False Congenital anomaly Inferred relationship Some 2
    A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. Associated morphology False Congenital anomaly Inferred relationship Some 3
    Myelodysplasia of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelodysplasia of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal hamartoma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal hamartoma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuroenteric cyst and associated malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuroenteric cyst and associated malformation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Neuroenteric cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Neuroenteric cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormality of neurogenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Defect of telencephalic division Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absence of septum pellucidum Associated morphology False Congenital anomaly Inferred relationship Some 1

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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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