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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 mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    Longitudinal deficiency of phalanges of foot Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of tongue Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital gastrointestinal-urinary tract fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniofacial microsomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fallopian tube and broad ligament anomalies, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lobulated tongue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Supernumerary lacrimal punctum Associated morphology False Congenital anomaly Inferred relationship Some 1
    L - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of whole lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pili torti-deafness syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of face bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ductus venosus abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    Female epispadias Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of both testes Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other fallopian tube and broad ligament anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duplication of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 2
    Deep haemangioma of skin Associated morphology False Congenital anomaly Inferred relationship Some 5
    Accessory tissue on aortic valve cusp Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple neurofibromas in neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Agenesis of nasolacrimal duct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of rib cartilage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sacral spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 6
    Neurofibromatosis type 1 Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital stenosis of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Myxoid transformation of tricuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fissure of tongue Associated morphology False Congenital anomaly Inferred relationship Some 2
    Abnormal palmar creases Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital tracheomalacia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 7
    Hydromyelocele with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 6
    [X]Other phakomatoses, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Exencephaly Associated morphology False Congenital anomaly Inferred relationship Some 3
    Exencephaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital ectropion Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital fissure of epiglottis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Elephantiasis neurofibromatosa Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other fallopian tube or broad ligament anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent right superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Swan's syndrome II Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital eyelid deformity NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital synostosis of lower limb bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital pulmonary venous atrium Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 7
    Papillon-Lefèvre syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital entropion Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microgenia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital dilatation of subclavian artery Associated morphology False Congenital anomaly Inferred relationship Some 3
    Incomplete ossification of mandible Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital degeneration Is a False Congenital anomaly Inferred relationship Some
    Triploidy, diploidy, mixoploidy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Four X syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    13q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Branchial vestige Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False Congenital anomaly Inferred relationship Some 4
    Iniencephaly - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Iniencephaly - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Iniencephaly - open Associated morphology False Congenital anomaly Inferred relationship Some 4
    Thoracic spina bifida with hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    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 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

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    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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