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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
    Lumbosacral agenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fibrolipoma of filum terminale Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malformation of the meninges Associated morphology False Congenital anomaly Inferred relationship Some 1
    Synophrys Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent eyebrow Associated morphology False Congenital anomaly Inferred relationship Some 2
    Double eyebrow Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posteriorly rotated ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cystic ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inferior vena cava connecting to coronary sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Aortic valve ring hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypoplasia of aortic valve cusp Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sinus of Valsalva aneurysm with rupture Associated morphology False Congenital anomaly Inferred relationship Some 2
    Abdominal aortic coarctation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Midline facial cleft - Tessier cleft 0 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline facial cleft - Tessier cleft 14 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline facial cleft - Tessier cleft 30 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paramedian facial cleft - Tessier cleft 1 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paramedian facial cleft - Tessier cleft 2 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Paramedian facial cleft - Tessier cleft 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 8 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 9 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 10 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 11 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 12 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Supraorbital facial cleft - Tessier cleft 13 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 4 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 5 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 6 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Infraorbital facial cleft - Tessier cleft 7 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unbalanced translocation and insertion Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial trisomy 21 in Down's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial trisomy 18 in Edward's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial trisomy 13 in Patau's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome trisomy - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Triploidy and polyploidy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of part of autosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced rearrangement and structural marker Associated morphology False Congenital anomaly Inferred relationship Some 1
    Balanced translocation and insertion in normal individual Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sex chromosome abnormality - female phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype - ring chromosome karyotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Female with more than three X chromosomes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaicism - lines with various numbers of X chromosomes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sex chromosome abnormality - male phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Male with structurally abnormal sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Male with sex chromosome mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 1
    FRAXA Associated morphology False Congenital anomaly Inferred relationship Some 1
    FRAXE Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital livedo reticularis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cavernous lymphangioma of skin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malposition of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosome replaced with ring or dicentric Associated morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy and partial trisomy of autosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Meningomyelocele/myelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Deletion with complex rearrangement Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cerebral dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vascular loops of inner ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vascular malformation of inner ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atelencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aprosencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital non-progressive ataxia Associated morphology False Congenital anomaly Inferred relationship Some 1
    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 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 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 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 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

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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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