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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
    Middle ear anomaly NEC NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of ossicles NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Inner ear anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified ear anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Eustachian tube anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified ear anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital ear anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft vestige, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft vestige NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Preauricular sinus or fistula NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other branchial cleft anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Branchial cleft, cyst or fistula preauricular anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Branchial cleft, cyst or fistula preauricular anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of neck NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Coarctation of aorta NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Total anomalous pulmonary venous return NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Arthrogryposis, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other arthrogryposis syndromes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Other deletions of part of a chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other deletion of part of a chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Deletions with other complex rearrangements Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Whole chromosome monosomy, mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other deletions from the autosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Monosomies and deletions from the autosomes NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other condition due to autosomal anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other trisomy C syndromes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified whole chromosome trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Whole chromosome trisomy syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial trisomy syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomies of autosomes NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Trisomy of autosomes NEC NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Balanced rearrangement or structural marker NEC NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Klinefelter's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sex chromosome mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other sex chromosome abnormality NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Sex chromosome anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Chromosomal anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Additional chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Deletion of chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Conditions due to anomaly of unspecified chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified anomalies of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other congenital anomaly of adrenal gland NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalies of adrenal gland NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other endocrine gland anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of pituitary gland NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalies of thyroid gland NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomaly of thyroid gland NEC NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Anomalies of thyroglossal duct NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified endocrine gland anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Endocrine gland anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Congenital malformations of the nervous system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other reduction deformities of brain Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified congenital malformations of brain Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital cauda equina malformations Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified congenital malformations of spinal cord Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified congenital malformations of nervous system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformations of middle ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Malformation of ear with impairment of hearing, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other mis-shapen ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified congenital malformations of ear Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other branchial cleft malformations Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Chromosomal abnormalities, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified trisomies and partial trisomies of autosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other deletions of part of a chromosome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other deletions from the autosomes Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other balanced rearrangements and structural markers Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Balanced rearrangement and structural marker, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other variants of Turner's syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other male with 46,XX karyotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified sex chromosome abnormalities, male phenotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other specified chromosome abnormalities Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Sex chromosome abnormality, male phenotype, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Aplasia of part of brain NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hypoplasia of part of brain NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Agenesis of part of brain NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Absence of ear NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Aneuploidy NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Down's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Edward's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Patau's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ovarian dwarfism NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Bonnevie-Ullrich syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida with hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida with hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida without hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida without hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Other specified spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Reduction deformities of brain NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified anomalies of spinal cord Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Balanced rearrangements and structural markers NEC Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified conditions due to autosomal anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1

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