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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    561791000077117 anomalie congénitale (anomalie morphologique) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly est un(e) (attribut) structure anormale sur le plan morphologique false Inferred relationship Some
    Congenital anomaly est un(e) (attribut) Developmental abnormality false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta - recessive - rough morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta - hypomaturation - recessive pigmented morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Amelogenesis imperfecta - hypomaturation - snow capped teeth morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Unspecified anomaly of heart valve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified anomaly of pulmonary artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other anomaly of trachea morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other anomaly of bronchus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other pharynx anomalies morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other pharynx anomalies NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified upper alimentary tract anomaly morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Upper alimentary tract anomalies NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Anomalies of pancreas morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Other specified anomalies of pancreas morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Obstructive defect of renal pelvis or ureter NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital sacrococcygeal anomalies NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital sacrococcygeal anomaly NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital malformation syndromes with other skeletal changes morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of pancreas and pancreatic duct morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Septal defect NOS morphologie associée (attribut) 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
    Pelvic osteotomy for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Anomalies of upper alimentary tract NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Fusion of tricuspid valve cusps NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Pancreas divisum - complete (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of peripheral blood vessel (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of blood vessel of upper limb (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Islet cell hyperplasia morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of renal blood vessel (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Amelogenesis imperfecta morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pancreas morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Karyotype 46, X iso (Xq) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Correction of tibial pseudoarthrosis by DCIA (deep circumflex iliac artery) bone flap Direct morphology False Congenital anomaly Inferred relationship Some 2
    Turner's phenotype, partial X deletion karyotype morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Right sided atrium connecting to ventricle of indeterminate morphology morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital absence of pancreas morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Correction of tibial pseudoarthrosis by excision and bone lengthening Direct morphology False Congenital anomaly Inferred relationship Some 2
    Mosaicism 45, X / other cell line with abnormal sex chromosome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Other specified correction of congenital deformity of leg Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of peripheral blood vessel (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    correction d'une anomalie morphologique congénitale du pied Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of leg NOS Direct morphology False Congenital anomaly Inferred relationship Some 1
    Atresia of heart valve NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    pancréas annulaire (trouble) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Persistence of primitive artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Karyotype 46, X with abnormal sex chromosome except iso (Xq) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Septal defect NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Secondary arthroplasty of hip for correction of congenital deformity Direct morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormalities of thoracic aortic branches morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Gynandromorphism syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Cutis marmorata (finding) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Pulmonary artery anomaly NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Fusion of tricuspid valve cusps NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital malformation syndrome with other skeletal changes NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified anomaly of pulmonary artery morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Four X syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Rud's syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital malformation syndromes with other skeletal changes morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other specified obstructive defect of renal pelvis or ureter morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Upper alimentary tract anomalies NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital anomaly of renal blood vessel (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital hereditary endothelial dystrophy type 1 (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital insufficiency of heart valve NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Complete trisomy 13 syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Turner's phenotype, karyotype normal morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Anomalies of pancreas morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Diaphragm anomalies NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Sturge-Weber syndrome (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other pharynx anomalies NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Fusion of heart valve cusps NEC morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    dystrophie endothéliale congénitale héréditaire type II morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Pelvic osteotomy for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Extra-articular soft tissue procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Soft tissue procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of the urinary tract proper (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Accessory pancreas morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    13q partial monosomy syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Shwachman syndrome morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    syndrome de Turner morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital abnormality of thoracic aorta and pulmonary arteries morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Congenital cyst of mediastinum morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of pancreas morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 2
    Bonnevie-Ullrich syndrome NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Congenital anomaly of peripheral nerve morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Aortic tunnel morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Other intestine anomalies NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Cryptotia (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Pelvic osteotomy for congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Shelf procedure for congenital dislocation of the hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Medullary cystic disease, otherwise specified (disorder) morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Down's syndrome NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Femoral osteotomy for correction of congenital deformity of hip Direct morphology False Congenital anomaly Inferred relationship Some 1
    Correction of congenital deformity of lower limb (procedure) Direct morphology False Congenital anomaly Inferred relationship Some 1
    Edward's syndrome NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Excision of anlage of fibula Direct morphology False Congenital anomaly Inferred relationship Some 2
    Patau's syndrome NOS morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Turner's phenotype - ring chromosome karyotype morphologie associée (attribut) False Congenital anomaly Inferred relationship Some
    Excision of anlage of tibia Direct morphology False Congenital anomaly Inferred relationship Some 2
    Aganglionosis of Auerbach's plexus morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1
    Renal pelvis and ureter obstructive defects morphologie associée (attribut) False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    GB English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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