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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

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

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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