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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
    Absence of septum pellucidum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Reduction anomaly of hypothalamus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Disorder of neuronal migration and differentiation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Type 1 lissencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Miller Dieker syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Type 2 lissencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Neuronal heterotopia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Nodular heterotopia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Laminar heterotopia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cortical dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Localized cortical dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cortical dysplasia with hemimegalencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Early secondary malformation of the central nervous system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Schizencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Colpocephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Microdysgenesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Dysgenesis of the cerebellum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Agenesis of cerebellum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Unilateral agenesis of cerebellum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Aplasia of the vermis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Familial aplasia of the vermis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Gillespie syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Granular cell hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cerebellar cortical dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Dysgenesis of the brainstem Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Olive dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Dentate dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Olivary heterotopia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chiari malformation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chiari malformation type I Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chiari malformation type III Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chiari malformation type IV Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Abnormality of canalization and retrogressive differentiation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sacral dysgenesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lumbosacral agenesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Fibrolipoma of filum terminale Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital malformation of the meninges Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Synophrys Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Absent eyebrow Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Double eyebrow Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Posteriorly rotated ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital cystic ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sinus of branchial cleft Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Inferior vena cava connecting to coronary sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Aortic valve ring hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Hypoplasia of aortic valve cusp Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Sinus of Valsalva aneurysm with rupture Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Abdominal aortic coarctation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Midline facial cleft - Tessier cleft 0 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Midline facial cleft - Tessier cleft 14 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Midline facial cleft - Tessier cleft 30 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Paramedian facial cleft - Tessier cleft 1 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Paramedian facial cleft - Tessier cleft 2 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Paramedian facial cleft - Tessier cleft 3 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Supraorbital facial cleft - Tessier cleft 8 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Supraorbital facial cleft - Tessier cleft 9 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Supraorbital facial cleft - Tessier cleft 10 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Supraorbital facial cleft - Tessier cleft 11 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Supraorbital facial cleft - Tessier cleft 12 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Supraorbital facial cleft - Tessier cleft 13 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Infraorbital facial cleft - Tessier cleft 4 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Infraorbital facial cleft - Tessier cleft 5 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Infraorbital facial cleft - Tessier cleft 6 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Infraorbital facial cleft - Tessier cleft 7 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Unbalanced translocation and insertion Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial trisomy 21 in Down's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial trisomy 18 in Edward's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial trisomy 13 in Patau's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Whole chromosome trisomy meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Whole chromosome trisomy - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Triploidy and polyploidy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Deletion of part of autosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Balanced rearrangement and structural marker Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Balanced translocation and insertion in normal individual Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sex chromosome abnormality - female phenotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Turner's phenotype - ring chromosome karyotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Female with more than three X chromosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mosaicism - lines with various numbers of X chromosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sex chromosome abnormality - male phenotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Male with structurally abnormal sex chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Male with sex chromosome mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    FRAXA Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    FRAXE Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital livedo reticularis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cavernous lymphangioma of skin Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital malposition of ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chromosome replaced with ring or dicentric Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Klinefelter's syndrome - male with more than two X chromosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy and partial trisomy of autosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Meningomyelocele/myelocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Deletion with complex rearrangement Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cerebral dysgenesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Vascular loops of inner ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Vascular malformation of inner ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Atelencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Aprosencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital non-progressive ataxia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital abnormality of external ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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