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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Thoracic spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lissencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Single congenital cerebral cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Multiple congenital cerebral cysts Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital abnormality of Eustachian tube Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital stenosis of eustachian tube Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital deformity of spine Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Trisomy 21- meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Trisomy 13, meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy 18 - meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Monosomy and deletion from autosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Deletion seen only at prometaphase Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Whole chromosome monosomy - meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Monosomy 21, mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Major partial trisomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Minor partial trisomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Duplication seen only at prometaphase Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Duplication with other complex rearrangement Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Extra marker chromosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chromosome inversion in normal individual Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Balanced autosomal rearrangement in abnormal individual Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Balanced sex/autosomal rearrangement in abnormal individual Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Individual with marker heterochromatin Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Individual with autosomal fragile site Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Karyotype 46, X iso (Xq) Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Klinefelter syndrome, male with 46,XX karyotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chimera 46, XX; 46, XY Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    46, XX true hermaphrodite Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Fragile X chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital cyst of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Carpenter's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spinobulbar atrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ectopic thyroid tissue Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital hypothyroidism with ectopic thyroid Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital mandibular asymmetry Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital horizontal mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital vertical mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital transverse mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital alveolar hyperplasia of mandible Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital horizontal mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital vertical mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital transverse mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital alveolar hypoplasia of mandible Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    21q partial distal trisomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    21q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypomyelinating neuropathy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Late congenital syphilitic polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Late secondary abnormalities of the central nervous system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Multicystic encephalomalacia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Periventricular leukomalacia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Neuronal choristoma Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    General fibrosis syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Strabismus fixus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Vertical retraction syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital cholesteatoma Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Structural anomaly of the cochlea and vestibular labyrinth Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete formation of the bony cochlea Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mondini defect Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Dilatation of the vestibular aqueduct Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Dilatation of semicircular canal Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Calcific aortic stenosis - bicuspid valve Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Vascular neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Vascular neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Parkes Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Diffuse arteriovenous fistula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Arthrogryposis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Sjögren-Larsson syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    8q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ring chromosome 11 syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    20p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of chromosome X Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Total anomalous pulmonary venous return Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Hydromyelia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Morning glory disc Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Bicuspid doming of aortic cusp Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Neural tube defect Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Neural tube defect Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Hemimyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Hemimyelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lipomeningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Lipomeningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Myelodysplasia of spinal cord Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Myelodysplasia of spinal cord Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spinal hamartoma Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spinal hamartoma Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Neuroenteric cyst and associated malformation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Neuroenteric cyst and associated malformation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Neuroenteric cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Neuroenteric cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Abnormality of neurogenesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Defect of telencephalic division Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Absence of septum pellucidum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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    This concept is not in any reference sets

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