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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
    Renal pelvis and ureter obstructive defects Associated morphology False Congenital anomaly Inferred relationship Some 1
    Prominent valve of inferior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other pharynx anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of diaphragm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Fibrolipoma of filum terminale Associated morphology False Congenital anomaly Inferred relationship Some 1
    Discordant ventriculoarterial connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomalies of intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes calcaneovarus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Trisomy 13, meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some
    Pancreas divisum - complete Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy 18 - meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some
    Hypoplasia of cardiac vein Associated morphology False Congenital anomaly Inferred relationship Some 2
    Trisomy 21- meiotic nondisjunction Associated morphology False Congenital anomaly Inferred relationship Some
    Correction of congenital deformity of hip NOS Direct morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of pancreas NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified anomalies of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Aortic root congenital abnormality Associated morphology False Congenital anomaly Inferred relationship Some 1
    10p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    8q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Persistent cerebral embryonic artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of aortic arch Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ash leaf spot, tuberous sclerosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of fallopian tubes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital vascular disorder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, other variant karyotypes Associated morphology False Congenital anomaly Inferred relationship Some
    Cobb's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of skeletal muscle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pleuropericardial cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervical thymic remnant Associated morphology False Congenital anomaly Inferred relationship Some 2
    Kommerell's diverticulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bregeat's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital pancreatic trypsin deficiency Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete trisomy 18 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Café-au-lait spots and ring chromosome 11 Associated morphology False Congenital anomaly Inferred relationship Some
    Primary seborrhoea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dextraposition of aorta in Fallot's tetralogy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomalies of upper alimentary tract NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    9p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Triple pelvic osteotomy for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Other specified correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Localised abdominal wall skin atrophy Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    1q partial monosomy Associated morphology False Congenital anomaly Inferred relationship Some
    Pancreas divisum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pulmonary artery anomaly, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of blood vessel of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Exstrophy of cloaca sequence Associated morphology False Congenital anomaly Inferred relationship Some 2
    Correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    13q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Mosaicism 45, X; 46, XX Associated morphology False Congenital anomaly Inferred relationship Some
    Double outlet left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified upper alimentary tract anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pancreas divisum - incomplete Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ovarian dwarfism NEC Associated morphology False Congenital anomaly Inferred relationship Some
    Dextrotransposition of aorta Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ring chromosome 11 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Complete trisomy 21 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Preauricular sinus and fistula Associated morphology False Congenital anomaly Inferred relationship Some 3
    11q partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Obstructive defect of renal pelvis or ureter NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 1 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Turner's syndrome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    10q partial monosomy Associated morphology False Congenital anomaly Inferred relationship Some
    Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Unspecified anomaly of heart valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Defective development of the cauda equina Associated morphology False Congenital anomaly Inferred relationship Some 2
    Preauricular sinus, pit or fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Proximal femoral osteotomy for correction of congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Cyclops hypognathus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epstein's pearl Associated morphology False Congenital anomaly Inferred relationship Some 2
    Preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Opocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Leydig cell agenesis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Preauricular sinus or fistula NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital enlargement Is a False Congenital anomaly Inferred relationship Some
    Posterolateral release for correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Acrocephalosyndactyly type V 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
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cloverleaf skull syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Saethre-Chotzen syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Humeroulnar synostosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oromandibular-limb hypogenesis spectrum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Proximal femoral osteotomy for correction of congenital dislocation of the 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
    Craniosynostosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Osteotomy of ilium for correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital tracheobronchomegaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cyclops hypognathus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oto-onycho-peroneal syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Ulnar and humeroulnar synostosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chiari osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Lateral developmental cyst of jaw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital cyst of canal of Nuck Associated morphology False Congenital anomaly Inferred relationship Some 2
    Colonna osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital palato-oesophageal incoordination 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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