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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 abnormality of external ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Retrosternal thyroid gland 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
    Mosaicism 45, X; 46, XX Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary splenic hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thyroglossal duct anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gynandromorphism syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Group chromosomal alteration Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group A Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group B Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group C and X Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group D Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group E (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group F Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chromosomal alterations of group G and Y Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of aortic arch AND/OR descending aorta (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of visual system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isologous chimera Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of central nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 22 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    12p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diplomyelia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Diplomyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Myeloschisis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Myeloschisis Associated morphology False Congenital anomaly Inferred relationship Some 1
    20q partial trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Coffin-Lowry syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Central nervous system malformation in fetus affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Some 1
    21q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    10q partial monosomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ligation of supernumerary fingers Direct morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 15 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of external auditory canal Associated morphology False Congenital anomaly Inferred relationship Some 1
    4p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Allantoic cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 13 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital stenosis of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Preauricular cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    syringomyélobulbie Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epidermodysplasia verruciformis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cerebral cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    8p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    22q partial monosomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular dimple Associated morphology False Congenital anomaly Inferred relationship Some 2
    Nodular calcific aortic valve stenosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    14q partial distal trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete trisomy 13 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Colloid cyst of third ventricle Associated morphology False Congenital anomaly Inferred relationship Some 2
    trisomie totale 14 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of middle ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of the peripheral nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chimera Associated morphology False Congenital anomaly Inferred relationship Some 1
    9q partial trisomy syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mandibular prognathism Associated morphology False Congenital anomaly Inferred relationship Some 3
    Ring chromosome 20 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of peripheral nerve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Median mandibular cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Distal arthrogryposis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Meromicrosomia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly Associated morphology False Congenital anomaly Inferred relationship Some 3
    Iniencephaly Associated morphology False Congenital anomaly Inferred relationship Some 4
    7p partial monosomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cat eye syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    11p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Faun tail syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent thyroglossal duct Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical auricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 14 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inherited arthrogryposis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital insufficiency of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 10 Associated morphology False Congenital anomaly Inferred relationship Some 1
    13q partial monosomy syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    8q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    1q partial monosomy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida of dorsal region (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Ring chromosome 21 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Arteriohepatic dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    monosomie partielle 12p Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 17 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniorachischisis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Craniorachischisis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida of cervical region Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 2 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of the thyroid gland Associated morphology False Congenital anomaly Inferred relationship Some 1
    7q partial trisomy (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mandibular retrognathism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Trisomy X syndrome (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ligation of supernumerary toes Direct morphology False Congenital anomaly Inferred relationship Some 2
    Sex phenotype-karyotype dissociation syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    1p partial monosomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Transposition of pulmonary veins Associated morphology False Congenital anomaly Inferred relationship Some 2
    Craniometaphyseal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    monosomie partielle 16q Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital enlargement of coronary sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 7 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Some 4
    Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Associated morphology False Congenital anomaly Inferred relationship Some 4

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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