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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
    Coronary orifice asymmetrical Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lack of ossification of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Paroophoron Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital horizontal mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Laryngeal cleft type I Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cylindrical embryo Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital ectropion Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Agenesis of larynx, trachea or bronchus NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Osteopetrosis - unclassified Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Pulmonary valve dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Windblown hand Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other pulmonary valve anomalies 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
    Other congenital anomalies of pelvis 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
    Other congenital anomalies of peripheral veins Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of lacrimal bone 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
    Erythrokeratoderma Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Unspecified spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lack of ossification of tibia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of the kidney Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital hypoplasia of nasal turbinate Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Klinefelter syndrome, male with 46,XX karyotype Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Incomplete ossification of mandible Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital clubbing 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
    Myelocystocele NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hypoplastic chondrodystrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital stenosis of vena cava Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Ectopic gastric mucosa Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Fetal trimethadione syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lack of ossification of talus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital cerebral meningocele Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Sex chromosome anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital anomaly of nose 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
    Hereditary follicular keratoses Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Dyke-Davidoff-Masson syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Rudimentary digit 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
    Persistent hyaloid artery Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    5p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Atrioventricular septal defect - isolated ventricular component Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Beaded hair Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Alstrom syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Obstructive heart anomaly NEC NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Interparietal craniosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of ischium Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Schizencephaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital overgrowth of whole lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Correction of congenital deformity of midfoot Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Correction of minor congenital deformity of foot NOS Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Multiple congenital cerebral cysts Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Truncal valve regurgitation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other anomaly of unspecified limb NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital stenosis of larynx or trachea NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Subpulmonary infundibulum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other congenital musculoskeletal anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital fold and cyst of posterior segment of eye Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Discordant atrioventricular connection Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Spinobulbar atrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Aortic arch anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete ossification of centrum of thoracic vertebra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Partial absence of alimentary tract NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete ossification of basisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    [X]Other congenital malformations of bladder and urethra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Solid rudimentary uterus 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
    Hypospadias or epispadias NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Non-fluoride enamel opacities Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Middle ear anomaly, excluding ossicles Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Acrania Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Lack of ossification of ilium Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Group chromosomal alteration Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital anomaly of upper respiratory system Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Isolation of brachiocephalic trunk Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital abnormality of uterus, affecting pregnancy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of face Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of digestive tract Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Deventer's pelvis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified circulatory system anomalies Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    46, XX true hermaphrodite Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Capitate-hamate synostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital rhabdomyoma of heart Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Late congenital syphilitic polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Hypoplasia of vagina Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of eyelid Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital heart block Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital buried penis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ear osseous meatus atresia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Congenital anosmia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Abnormal lung lobation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Cervical spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Dentin dysplasia, type I Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Other specified digestive system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Constriction ring of lower limb Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Ebstein's anomaly with atrial septal defect Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2

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