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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
    Dilwyn Evans procedure for correction of clubfoot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Common arterial trunk and common origin of pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of supraoccipital bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tetralogy of Fallot with pulmonary stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ankyloblepharon Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lobulated tongue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary atresia with confluent pulmonary arteries Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of spine NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with stenosis of aqueduct of Sylvius Associated morphology False Congenital anomaly Inferred relationship Some 1
    Severe X-linked myotubular myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital short urethra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial trisomy 21 in Down's syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of bile ducts Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypomyelinogenesis congenita Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bipartite ossification of centrum of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomalies of cervical vertebrae NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital nephrotic syndrome with focal glomerulosclerosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of skull and face bones Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other branchial cleft anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of mitral valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal fusion of forepaw phalanx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Taenzer's hair Associated morphology False Congenital anomaly Inferred relationship Some 1
    Genetic abnormality of hair shaft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of corpus callosum NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Obstructive Eustachian valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Genodermatosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Constriction ring of upper limb with lymphoedema Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of fingers NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of lower limb(s), including pelvic girdle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Persistent left posterior cardinal vein Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cavernous lymphangioma of skin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of neural structure of trunk Associated morphology False Congenital anomaly Inferred relationship Some 1
    Talipes equinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of anterior segment of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other malformations of precerebral vessels Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isomerism of right atrial appendage Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital spondylolisthesis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of skin Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomalies of elbow and upper arm Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Urethra or bladder neck atresia or stenosis NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atlanto-occipital malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft internal sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Palmoplantar keratoderma transgrediens Associated morphology False Congenital anomaly Inferred relationship Some 1
    Megacystis-megaureter syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Middle ear anomaly NEC NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of limb(s) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Osteopetrosis with renal tubular acidosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of tympanic anulus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Syringobulbia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Olivary heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of long arm of chromosome 13 Associated morphology False Congenital anomaly Inferred relationship Some
    Abnormality of canalisation and retrogressive differentiation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Drash syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified urethra or bladder neck atresia or stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital unilateral vesicoureterorenal reflux Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hourglass bladder Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified skull or face bone anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pelvis justo minor Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of epididymis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 7 Associated morphology False Congenital anomaly Inferred relationship Some
    1q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Swan's syndrome II Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of integument Associated morphology False Congenital anomaly Inferred relationship Some 1
    8q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Infundibular pulmonic stenosis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multi-core congenital myopathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Micrognathism unspecified Associated morphology False Congenital anomaly Inferred relationship Some 2
    Vitreous anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of the digestive system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital thickening of scapula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anomaly of cerebellum NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Isomerism of atrial appendages Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital fenestration of basisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Osteopetrosis - intermediate type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dermatoglyphic anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lung agenesis, hypoplasia and dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inverted pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome pair 2 Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital abnormality of atria and atrial septum Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformation of circulatory system, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incontinentia pigmenti syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Trisomy X syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Sacral spina bifida with hydrocephalus - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Pulmonary trunk atresia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital commissural pits Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane syndrome with vertical deviation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified ear anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Keratolysis exfoliativa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of tongue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 18 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Coronary sinus defect in left atrium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of alisphenoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital faecaliths causing obstruction Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other congenital anomaly of adrenal gland NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Midline cervical cleft Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital thickening of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Separation of tarsal coalition Direct morphology False Congenital anomaly Inferred relationship Some 1
    Hyperplastic tooth follicle Associated morphology False Congenital anomaly Inferred relationship Some 3

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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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