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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
    Klinefelter's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sex chromosome mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other sex chromosome abnormality NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sex chromosome anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Additional chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Conditions due to anomaly of unspecified chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of adrenal gland NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of adrenal gland NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other endocrine gland anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of pituitary gland NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of thyroid gland NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of thyroid gland NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of thyroglossal duct NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified endocrine gland anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Endocrine gland anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations of the nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of brain Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital cauda equina malformations Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of middle ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Malformation of ear with impairment of hearing, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other mis-shapen ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other branchial cleft malformations Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Chromosomal abnormalities, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified trisomies and partial trisomies of autosomes Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other deletions of part of a chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other deletions from the autosomes Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other balanced rearrangements and structural markers Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Balanced rearrangement and structural marker, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other variants of Turner's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other male with 46,XX karyotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified sex chromosome abnormalities, male phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified chromosome abnormalities Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia of part of brain NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of part of brain NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Agenesis of part of brain NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absence of ear NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aneuploidy NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Down's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Edward's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Patau's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ovarian dwarfism NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bonnevie-Ullrich syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida with hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida without hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other specified spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Reduction deformities of brain NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced rearrangements and structural markers NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified conditions due to autosomal anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified conditions due to autosomal anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, other variant karyotypes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital CNS anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital arthrogryposis due to teratogen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Congenital anomaly Inferred relationship Some 2
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Congenital anomaly Inferred relationship Some 3
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Congenital anomaly Inferred relationship Some 4
    Translocation Down syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital syringomyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ectopic gastric mucosa - multiple sites Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chiari malformation type II Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pallister-Killian syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fibrosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fibrosis of inferior rectus muscle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dysplasia of cerebral cortex Associated morphology False Congenital anomaly Inferred relationship Some 2
    Port-wine stain associated with spinal dysraphism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia cutis in Trisomy 13 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Café-au-lait spots and ring chromosome 11 Associated morphology False Congenital anomaly Inferred relationship Some 2
    Autosomal chromosomal disorder Associated morphology False Congenital anomaly Inferred relationship Some 1
    XXYY syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Poly Y syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary neurocutaneous angiomata Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hereditary neurocutaneous angiomata Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital dystrophy Is a False Congenital anomaly Inferred relationship Some
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 4
    Sturge-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sturge-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of uvula Associated morphology False Congenital anomaly Inferred relationship Some 1

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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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