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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Atresia of anterior urethra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Granular cell hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital heart disease Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of thoracic vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other phakomatoses, not elsewhere classified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Fetal mummification (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lumpy scalp syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Left ventricular-right atrial communication Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormality of right superior vena cava Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lower moiety ureter of duplex kidney Associated morphology False anomalie congénitale Inferred relationship Some 1
    Short preputial frenulum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital deformity of musculoskeletal system NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Birth mark, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Dual coronary orifice Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital musculoskeletal deformity NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital deformity of scapula NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Transposition of aorta Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormal shape of forepaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other congenital anomaly of liver Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lumbar spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of the urinary system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of sacral vertebra Associated morphology False anomalie congénitale Inferred relationship Some 1
    Netherton syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    perte en longueur de l'arcade dentaire causée par l'absence congénitale de dents Associated morphology False anomalie congénitale Inferred relationship Some 1
    Uncombable hair syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital functional disorders of colon Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital woolly hair Associated morphology False anomalie congénitale Inferred relationship Some 1
    Neurocutaneous syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spina bifida with hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of cerebral artery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Chromosome replaced with ring or dicentric Associated morphology False anomalie congénitale Inferred relationship Some
    Dextroposition of ductus arteriosus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Imperforate esophagus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of supraoccipital bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomaly of chromosome pair 13 Associated morphology False anomalie congénitale Inferred relationship Some
    Epispadias (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Persistent hyperplastic primary vitreous Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of endocrine gonad (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Aberrant course of left anterior descending coronary artery from right coronary artery crossing right ventricular outflow tract (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Congenital malformation of intestine, unspecified Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other specified trisomies and partial trisomies of autosomes Associated morphology False anomalie congénitale Inferred relationship Some 1
    Thoracic spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital ear anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other congenital anomaly of hepatic or bile ducts Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of congenital deformity of hindfoot (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    Chromosomal alterations of group G and Y Associated morphology False anomalie congénitale Inferred relationship Some
    Lack of ossification of presphenoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other congenital malformations of liver Associated morphology False anomalie congénitale Inferred relationship Some 1
    Nevus NEC Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mosaic XO/XX Associated morphology False anomalie congénitale Inferred relationship Some
    Unspecified anomaly of muscle Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Chromosomal abnormalities, not elsewhere classified Associated morphology False anomalie congénitale Inferred relationship Some 1
    Anomalous termination of right pulmonary vein Associated morphology False anomalie congénitale Inferred relationship Some 1
    Mosaic XO/XY Associated morphology False anomalie congénitale Inferred relationship Some
    Anomaly of sex chromosome Associated morphology False anomalie congénitale Inferred relationship Some
    Cardiac septal defects Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital malposition of digestive system NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Correction of clubfoot (procedure) Direct morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of cerebrovascular system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other specified anomalies of uterus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anteversion of femur Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other muscle, tendon or fascia anomalies NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sacral spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of vitreous body Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of vomer Associated morphology False anomalie congénitale Inferred relationship Some 1
    An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital hypoplasia of spleen Associated morphology False anomalie congénitale Inferred relationship Some 2
    Other congenital limb anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Abnormal liver lobulation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of mouth Associated morphology False anomalie congénitale Inferred relationship Some 1
    Repair of claw toe Direct morphology False anomalie congénitale Inferred relationship Some 1
    Upper moiety ureter of duplex kidney Associated morphology False anomalie congénitale Inferred relationship Some 1
    Bregeat's syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Eccentric opening of aortic valve Associated morphology False anomalie congénitale Inferred relationship Some 1
    Color changes during tooth formation Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other anomaly of tendon, fascia or muscle NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital abnormal shape of hindpaw phalanx Associated morphology False anomalie congénitale Inferred relationship Some 2
    Intramural coronary artery course Associated morphology False anomalie congénitale Inferred relationship Some 1
    Truncus arteriosus, Edwards' type IV Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pulmonary artery atresia Associated morphology False anomalie congénitale Inferred relationship Some 1
    syringomyélobulbie Associated morphology False anomalie congénitale Inferred relationship Some 1
    Cervical spina bifida without hydrocephalus - open Associated morphology False anomalie congénitale Inferred relationship Some 2
    Flexural Darier's disease (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    [X]Other specified congenital malformations of digestive system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Arterial anomaly of umbilical cord Associated morphology False anomalie congénitale Inferred relationship Some 1
    Branchial cleft vestige NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Lack of ossification of scapula Associated morphology False anomalie congénitale Inferred relationship Some 1
    [X]Other deletions of part of a chromosome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Evans operation Direct morphology False anomalie congénitale Inferred relationship Some 1
    Klinefelter's syndrome - male with more than two X chromosomes Associated morphology False anomalie congénitale Inferred relationship Some
    Congenital mandibular hypoplasia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Dysgenesis of the cerebellum Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital macrognathism Associated morphology False anomalie congénitale Inferred relationship Some 2
    Uterus cordiformis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of ear Associated morphology False anomalie congénitale Inferred relationship Some 1
    Macrocolon Associated morphology False anomalie congénitale Inferred relationship Some 1
    Ectopic pancreas Associated morphology False anomalie congénitale Inferred relationship Some 3
    [X]Other specified congenital malformations of intestine Associated morphology False anomalie congénitale Inferred relationship Some 1
    Incomplete ossification of humerus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of upper limb Associated morphology False anomalie congénitale Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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