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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
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Højre ventrikels afløbskammer Associated morphology False kongenit anomali Inferred relationship Some 1
    Intra-articular soft tissue procedure for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Extra-articular soft tissue procedure for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Osteotomy of ilium for correction of congenital deformity of hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Salter osteotomy for congenital deformity of hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Chiari osteotomy for congenital deformity of hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Colonnas operation for kongenit deformitet i hofte Direct morphology False kongenit anomali Inferred relationship Some 2
    anden specificeret korrektion af kongenit deformitet i hofte Direct morphology False kongenit anomali Inferred relationship Some 1
    Excision of anlage of fibula Direct morphology False kongenit anomali Inferred relationship Some 2
    Centralization tarsus correction Direct morphology False kongenit anomali Inferred relationship Some 2
    Omvendt rotationsplastik på ankel Direct morphology False kongenit anomali Inferred relationship Some 2
    Gruca tibial bifurcation procedure Direct morphology False kongenit anomali Inferred relationship Some 2
    Creation of tibiofibular synostosis Direct morphology False kongenit anomali Inferred relationship Some 2
    anden specificeret korrektion af kongenit deformitet i ben Direct morphology False kongenit anomali Inferred relationship Some 1
    korrektion af kongenit deformitet i ben, ikke nærmere specificeret Direct morphology False kongenit anomali Inferred relationship Some 1
    Soft tissue procedure for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Triple pelvic osteotomy for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap Direct morphology False kongenit anomali Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by excision and bone lengthening Direct morphology False kongenit anomali Inferred relationship Some 2
    Persistence of primitive artery Associated morphology False kongenit anomali Inferred relationship Some 1
    Persistent cerebral embryonic artery Associated morphology False kongenit anomali Inferred relationship Some 2
    Cystic fibrosis of pancreas Associated morphology False kongenit anomali Inferred relationship Some 1
    Amelogenesis imperfecta - hypoplastic autosomal dominant - local Associated morphology False kongenit anomali Inferred relationship Some 2
    Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth Associated morphology False kongenit anomali Inferred relationship Some 2
    Amelogenesis imperfecta - recessive - rough (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Amelogenesis imperfecta - hypomaturation - recessive pigmented Associated morphology False kongenit anomali Inferred relationship Some 2
    Amelogenesis imperfecta - hypomaturation - snow capped teeth Associated morphology False kongenit anomali Inferred relationship Some 2
    uspecificeret hjerteklapanomali Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret arteria pulmonalis-anomali Associated morphology False kongenit anomali Inferred relationship Some 1
    anden anomali af trachea Associated morphology False kongenit anomali Inferred relationship Some 1
    anden anomali af bronkie Associated morphology False kongenit anomali Inferred relationship Some 1
    andre pharynxanomalier Associated morphology False kongenit anomali Inferred relationship Some 1
    andre pharynxanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret anomali af øvre fordøjelseskanal Associated morphology False kongenit anomali Inferred relationship Some 1
    anomalier af øvre fordøjelseskanal, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Anomalies of pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    Andre specificerede pancreasanomalier Associated morphology False kongenit anomali Inferred relationship Some 2
    obstruktiv defekt i pelvis renalis eller ureter, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenitte sakrokokcygeale anomalier, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 2
    kongenit sakrokokcygeal anomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Kongenitte malformationssyndromer med andre skeletforandringer Associated morphology False kongenit anomali Inferred relationship Some 1
    [X]Other congenital malformations of pancreas and pancreatic duct Associated morphology False kongenit anomali Inferred relationship Some 2
    Septumdefekt, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Primary osteotomy of pelvis for correction of congenital deformity of hip Direct morphology False kongenit anomali Inferred relationship Some 2
    Pelvic osteotomy for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Anomalier af øvre fordøjelseskanal, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Sammenvoksning af trikuspidalklapflige, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Pancreas divisum - complete (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of peripheral blood vessel (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of blood vessel of upper limb (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Islet cell hyperplasia Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of renal blood vessel (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Amelogenesis imperfecta Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit anomali i pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    Karyotype 46, X iso (Xq) Associated morphology False kongenit anomali Inferred relationship Some
    Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap Direct morphology False kongenit anomali Inferred relationship Some 2
    Turner's phenotype, partial X deletion karyotype Associated morphology False kongenit anomali Inferred relationship Some
    Right sided atrium connecting to ventricle of indeterminate morphology Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital absence of pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by excision and bone lengthening Direct morphology False kongenit anomali Inferred relationship Some 2
    mosaicisme 45, X/anden cellelinje med abnormt kønskromosom Associated morphology False kongenit anomali Inferred relationship Some
    anden specificeret korrektion af kongenit deformitet i ben Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of peripheral blood vessel (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Correction of congenital deformity of foot Direct morphology False kongenit anomali Inferred relationship Some 1
    korrektion af kongenit deformitet i ben, ikke nærmere specificeret Direct morphology False kongenit anomali Inferred relationship Some 1
    atresi af hjerteklap, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Annular pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    Persistence of primitive artery Associated morphology False kongenit anomali Inferred relationship Some 1
    Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False kongenit anomali Inferred relationship Some
    Septumdefekt, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    sekundær atroplastik til korrektion af kongenit deformitet i hofte Direct morphology False kongenit anomali Inferred relationship Some 2
    Congenital abnormalities of thoracic aortic branches Associated morphology False kongenit anomali Inferred relationship Some 1
    Gynandromorphism syndrome (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Cutis marmorata Associated morphology False kongenit anomali Inferred relationship Some 1
    arteria pulmonalis-anomali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Sammenvoksning af trikuspidalklapflige, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit misdannelsessyndrom med andre skeletforandringer, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret arteria pulmonalis-anomali Associated morphology False kongenit anomali Inferred relationship Some 1
    A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder 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. Associated morphology False kongenit anomali Inferred relationship Some
    Rud's syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenitte malformationssyndromer med andre skeletforandringer Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret obstruktiv defekt i pelvis renalis eller ureter Associated morphology False kongenit anomali Inferred relationship Some 1
    anomalier af øvre fordøjelseskanal, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Turners fænotype, mosaicisme 45, X; 46, XX eller 45, X; 46, XY Associated morphology False kongenit anomali Inferred relationship Some
    Congenital anomaly of renal blood vessel (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Kongenit hereditær endoteldystrofi type 1 Associated morphology False kongenit anomali Inferred relationship Some
    Kongenit hjerteklapinsufficiens, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Complete trisomy 13 syndrome Associated morphology False kongenit anomali Inferred relationship Some
    Turner's phenotype, karyotype normal Associated morphology False kongenit anomali Inferred relationship Some
    Anomalies of pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    Diaphragmaanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Sturge-Weber syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    andre pharynxanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Sammenvoksning af hjerteklapfligklapper, ikke klassificeret andetsteds Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy type 2 (disorder) Associated morphology False kongenit anomali Inferred relationship Some
    Pelvic osteotomy for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Extra-articular soft tissue procedure for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Soft tissue procedure for congenital dislocation of the hip Direct morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of the urinary tract proper (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Accessory pancreas Associated morphology False kongenit anomali Inferred relationship Some 2
    13q partial monosomy syndrome Associated morphology False kongenit anomali Inferred relationship Some

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