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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 false Inferred relationship Some
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Right ventricle outflow chamber Associated morphology False Congenital anomaly Inferred relationship Some 1
    Intra-articular soft tissue procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Extra-articular soft tissue procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Osteotomy of ilium for correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Salter osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Chiari osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Colonna osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Other specified correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Excision of anlage of fibula Direct morphology False Congenital anomaly Inferred relationship Some 2
    Centralization tarsus correction Direct morphology False Congenital anomaly Inferred relationship Some 2
    Reversal rotation-plasty of ankle Direct morphology False Congenital anomaly Inferred relationship Some 2
    Gruca tibial bifurcation procedure Direct morphology False Congenital anomaly Inferred relationship Some 2
    Creation of tibiofibular synostosis Direct morphology False Congenital anomaly Inferred relationship Some 2
    Other specified correction of congenital deformity of leg 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
    Soft tissue procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Triple pelvic osteotomy for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap Direct 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
    Persistence of primitive artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent cerebral embryonic artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cystic fibrosis of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 1
    Amelogenesis imperfecta - hypoplastic autosomal dominant - local Associated morphology False Congenital anomaly Inferred relationship Some 2
    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 (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of peripheral blood vessel (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of blood vessel of upper limb (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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
    Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. 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 (disorder) 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 (disorder) 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 (disorder) 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

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