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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital CNS anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cobb's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of radius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dickson-Diveley operation Direct morphology False Congenital anomaly Inferred relationship Some 2
    Uterus bilocularis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of spleen NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reduction of macrodactyly of toe Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of palate Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acephalobrachius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital dislocation of elbow (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Multifocal retinal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypertrichosis with congenital macrogingivae (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital lip pits Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of arch of caudal vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of musculoskeletal structure of trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Liver or biliary system anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital clubbed paw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Familial focal facial dermal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Moon's molar teeth Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformation of larynx, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Blepharophimosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ranula (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracic myelocystocele Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tubule of epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 1
    18p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Incomplete ossification of squamosal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single vessel of umbilical cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified correction of congenital deformity of hand Direct morphology False Congenital anomaly Inferred relationship Some 1
    Commissural fusion of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent fetal circulation syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cleft mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bilateral superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ocular adnexa (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of pharynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of fibula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Parkes Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Heart bulb or septal closure defects NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Kohlschutter's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic XY/XXY Associated morphology False Congenital anomaly Inferred relationship Some
    Preductal interruption of aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified birthmark Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent aortic arch convolutions Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dolichopellic pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    3p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of lower alimentary tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Additional sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital abnormality of uterus in pregnancy, childbirth and the puerperium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletions with other complex rearrangements Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital thickening of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of esophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    hypospadias balanique Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of iris and ciliary body Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic including XXXXY Associated morphology False Congenital anomaly Inferred relationship Some
    Balanced rearrangements and structural markers NEC Associated morphology False Congenital anomaly Inferred relationship Some
    Dental arch length loss secondary to loss of primary precursors Associated morphology False Congenital anomaly Inferred relationship Some 1
    Developmental anomaly of vitelline duct (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent bridging vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome XXXY Associated morphology False Congenital anomaly Inferred relationship Some
    Other spina bifida with hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ringed hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    On examination - pigeon chest Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cystic testicular dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital ichthyosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Marie Unna syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of intestinal tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cartilage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory tissue on pulmonary valve cusp Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mis-shapen spleen Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of nails Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other heart bulb and septal closure defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Developmental malformation of branchial arch (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bifid kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other deletions from the autosomes Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of squamosal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of stomach Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ichthyosiform erythroderma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sex chromosome mosaicism (disorder) Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital flat back deformity (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of thoracic cage unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 20 Associated morphology False Congenital anomaly Inferred relationship Some
    Lack of ossification of squamosal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unspecified anomaly of bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of cervix Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Occipital dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of heart (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Other duplication of limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tubular hypoplasia of aorta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous muscle bands of left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of scapula Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of skin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of radius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bronchial atresia with segmental pulmonary emphysema Associated morphology False Congenital anomaly Inferred relationship Some 4
    Other congenital skin anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurofibromatosis type 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital enlarged nails Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atresia of anterior urethra Associated morphology False Congenital anomaly 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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