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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
    Dental arch length loss secondary to congenitally missing teeth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Uncombable hair syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital functional disorders of colon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital woolly hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of cerebral artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chromosome replaced with ring or dicentric Associated morphology False Congenital anomaly Inferred relationship Some
    Dextroposition of ductus arteriosus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperforate oesophagus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 13 Associated morphology False Congenital anomaly Inferred relationship Some
    Epispadias Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent hyperplastic primary vitreous Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of endocrine gonad Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformation of intestine, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified trisomies and partial trisomies of autosomes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Thoracic spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ear anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of hepatic or bile ducts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of hindfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Chromosomal alterations of group G and Y Associated morphology False Congenital anomaly Inferred relationship Some
    Lack of ossification of presphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of liver Associated morphology False Congenital anomaly Inferred relationship Some 1
    Naevus NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic XO/XX Associated morphology False Congenital anomaly Inferred relationship Some
    Unspecified anomaly of muscle Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Chromosomal abnormalities, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous termination of right pulmonary vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaic XO/XY Associated morphology False Congenital anomaly Inferred relationship Some
    Anomaly of sex chromosome Associated morphology False Congenital anomaly Inferred relationship Some
    Cardiac septal defects Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital malposition of digestive system NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of clubfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of cerebrovascular system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of uterus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anteversion of femur Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other muscle, tendon or fascia anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vitreous body Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vomer Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 22 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital hypoplasia of spleen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other congenital limb anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal liver lobulation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of mouth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Repair of claw toe Direct morphology False Congenital anomaly Inferred relationship Some 1
    Upper moiety ureter of duplex kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bregeat's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Eccentric opening of aortic valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Colour changes during tooth formation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of tendon, fascia or muscle NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal shape of hindpaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Intramural coronary artery course Associated morphology False Congenital anomaly Inferred relationship Some 1
    Truncus arteriosus, Edwards' type IV Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary artery atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringomyelobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - open Associated morphology False Congenital anomaly Inferred relationship Some 2
    Flexural Darier's disease Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other specified congenital malformations of digestive system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Arterial anomaly of umbilical cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft vestige NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of scapula Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other deletions of part of a chromosome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Evans operation Direct morphology False Congenital anomaly Inferred relationship Some 1
    Klinefelter's syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Dysgenesis of the cerebellum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital macrognathism Associated morphology False Congenital anomaly Inferred relationship Some 2
    Uterus cordiformis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ear Associated morphology False Congenital anomaly Inferred relationship Some 1
    Macrocolon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectopic pancreas Associated morphology False Congenital anomaly Inferred relationship Some 3
    [X]Other specified congenital malformations of intestine Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of humerus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of upper limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of gallbladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomalies of peripheral arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of valve of vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital umbilical defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Correction of tibial pseudoarthrosis by free fibula graft Direct morphology False Congenital anomaly Inferred relationship Some 2
    Miller Dieker syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital malformation of the meninges Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia of part of brain NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of part of brain NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double eyebrow Associated morphology False Congenital anomaly Inferred relationship Some 1
    Embryotoxon Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ambiguous atrioventricular connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right sided atrium connecting to ventricle of indeterminate morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent right superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormality of left atrial appendage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tricuspid annulus hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital right ventricular diverticulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of left ventricular inflow tract Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory tissue on aortic valve cusp Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aorta to right ventricle tunnel Associated morphology False Congenital anomaly Inferred relationship Some 1
    Coronary artery runs between aorta and pulmonary trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Malformation of throat Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital displacement of gastric mucosa 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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