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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
    Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Associated morphology False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta - recessive - rough Associated morphology False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta - hypomaturation - recessive pigmented Associated morphology False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta - hypomaturation - snow capped teeth Associated morphology False Congenital anomaly Inferred relationship Some 2
    Unspecified anomaly of heart valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomaly of pulmonary artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of trachea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of bronchus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other pharynx anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other pharynx anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified upper alimentary tract anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Upper alimentary tract anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified anomalies of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Obstructive defect of renal pelvis or ureter NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomalies NEC Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital sacrococcygeal anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital malformation syndromes with other skeletal changes Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of pancreas and pancreatic duct Associated morphology False Congenital anomaly Inferred relationship Some 2
    Septal defect NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Primary osteotomy of pelvis for correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Pelvic osteotomy for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of upper alimentary tract NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fusion of tricuspid valve cusps NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pancreas divisum - complete Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of peripheral blood vessel Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of blood vessel of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Islet cell hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of renal blood vessel Associated morphology False Congenital anomaly Inferred relationship Some 1
    Amelogenesis imperfecta Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Karyotype 46, X iso (Xq) Associated morphology False Congenital anomaly Inferred relationship Some
    Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap Direct morphology False Congenital anomaly Inferred relationship Some 2
    Turner's phenotype, partial X deletion karyotype Associated morphology False Congenital anomaly Inferred relationship Some
    Right sided atrium connecting to ventricle of indeterminate morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by excision and bone lengthening Direct morphology False Congenital anomaly Inferred relationship Some 2
    Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some
    Other specified correction of congenital deformity of leg Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of peripheral blood vessel Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of leg NOS Direct morphology False Congenital anomaly Inferred relationship Some 1
    Atresia of heart valve NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Annular pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Persistence of primitive artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Congenital anomaly Inferred relationship Some
    Septal defect NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Secondary arthroplasty of hip for correction of congenital deformity Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormalities of thoracic aortic branches Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gynandromorphism syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Cutis marmorata Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary artery anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fusion of tricuspid valve cusps NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malformation syndrome with other skeletal changes NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomaly of pulmonary artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Four X syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Rud's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malformation syndromes with other skeletal changes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified obstructive defect of renal pelvis or ureter Associated morphology False Congenital anomaly Inferred relationship Some 1
    Upper alimentary tract anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of renal blood vessel Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy type 1 Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital insufficiency of heart valve NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Complete trisomy 13 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Turner's phenotype, karyotype normal Associated morphology False Congenital anomaly Inferred relationship Some
    Anomalies of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diaphragm anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sturge-Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other pharynx anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fusion of heart valve cusps NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy type 2 Associated morphology False Congenital anomaly Inferred relationship Some
    Pelvic osteotomy for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Extra-articular soft tissue procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Soft tissue procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of the urinary tract proper Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    13q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Shwachman syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Turner syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital abnormality of thoracic aorta and pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cyst of mediastinum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bonnevie-Ullrich syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of peripheral nerve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aortic tunnel Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other intestine anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cryptotia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pelvic osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Shelf procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Medullary cystic disease OS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Down's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Femoral osteotomy for correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of lower limb Direct morphology False Congenital anomaly Inferred relationship Some 1
    Edward's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Excision of anlage of fibula Direct morphology False Congenital anomaly Inferred relationship Some 2
    Patau's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Turner's phenotype - ring chromosome karyotype Associated morphology False Congenital anomaly Inferred relationship Some
    Excision of anlage of tibia Direct morphology False Congenital anomaly Inferred relationship Some 2
    Aganglionosis of Auerbach's plexus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Renal pelvis and ureter obstructive defects 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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