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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
    Congenital chordee Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hydatid cyst of Morgagni - male Associated morphology False Congenital anomaly Inferred relationship Some 3
    Webbed penis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diphallus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cystic testicular dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Crossed ectopia of testis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital buried penis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital lateral curvature of penis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital hypoplasia of penis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of left pulmonary artery Associated morphology False Congenital anomaly Inferred relationship Some 2
    Chiari's network Associated morphology False Congenital anomaly Inferred relationship Some 2
    Complete transposition of great vessels Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal arteriovenous malformation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Aortic left ventricular tunnel Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pulmonary hypertension in neurofibromatosis Associated morphology False Congenital anomaly Inferred relationship Some 4
    Single tooth macrodontia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Relative generalised macrodontia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Relative generalised microdontia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Anterolateral muscle band Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bilateral atria Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bilateral isomeric atria Associated morphology False Congenital anomaly Inferred relationship Some 1
    Malaligned outlet septum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posteromedial muscle band Associated morphology False Congenital anomaly Inferred relationship Some 1
    False tendon - heart Associated morphology False Congenital anomaly Inferred relationship Some 1
    Septoparietal trabeculations Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single congenital anomaly Associated morphology False Congenital anomaly Inferred relationship Some
    Upper moiety ureter of duplex kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lower moiety ureter of duplex kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Posterior fossa brain malformation, haemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tibial muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Some 3
    Tetrasomy 18p Associated morphology False Congenital anomaly Inferred relationship Some
    Patent vitelline duct Associated morphology False Congenital anomaly Inferred relationship Some 3
    Tubule of paroophoron Associated morphology False Congenital anomaly Inferred relationship Some 2
    Epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 2
    Vitelline duct polyp Associated morphology False Congenital anomaly Inferred relationship Some 4
    Mitral valve dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Developmental anomaly of vitelline duct Associated morphology False Congenital anomaly Inferred relationship Some 3
    Tubule of epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 2
    Duct of epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 2
    Paroophoron Associated morphology False Congenital anomaly Inferred relationship Some 2
    Mitral leaflet dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Thyroglossal duct sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Acrosyndactyly of toe Associated morphology False Congenital anomaly Inferred relationship Some 1
    Prominent renal pelvis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital prelingual deafness Associated morphology False Congenital anomaly Inferred relationship Some 3
    Microdeletion of chromosome 15q13.3 Associated morphology False Congenital anomaly Inferred relationship Some
    Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Associated morphology False Congenital anomaly Inferred relationship Some 6
    Blepharophimosis-intellectual disability syndrome, SBBYS type Associated morphology False Congenital anomaly Inferred relationship Some 6
    1q21.1 microdeletion Associated morphology False Congenital anomaly Inferred relationship Some
    1p36 deletion syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Chromosome 16p11.2 deletion syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    15q24 microdeletion Associated morphology False Congenital anomaly Inferred relationship Some
    22q13.3 deletion syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    22q11.2 duplication syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Weissenbacher-Zweymuller syndrome Associated morphology False Congenital anomaly Inferred relationship Some 4
    Weissenbacher-Zweymuller syndrome Associated morphology False Congenital anomaly Inferred relationship Some 5
    Weissenbacher-Zweymuller syndrome Associated morphology False Congenital anomaly Inferred relationship Some 6
    Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Associated morphology False Congenital anomaly Inferred relationship Some 7
    Blepharophimosis-intellectual disability syndrome, SBBYS type Associated morphology False Congenital anomaly Inferred relationship Some 7
    Oculoskeletal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 3
    Oculoskeletal dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 4
    Agenesis of enamel Associated morphology False Congenital anomaly Inferred relationship Some 3
    Shovel-shaped incisor Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of clavicle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of clavicle Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital pseudoarthrosis of clavicle Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormal shape of clavicle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital bent clavicle Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital thickening of clavicle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cleidocranial dysostosis Associated morphology False Congenital anomaly Inferred relationship Some 5
    Lack of ossification of clavicle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital deformity of clavicle Associated morphology False Congenital anomaly Inferred relationship Some 2
    Gingival cyst of adult Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spinal dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Straight back syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of spine Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital spondylolisthesis of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital deformity of spine Associated morphology False Congenital anomaly Inferred relationship Some 2
    Excessive dental arch length Associated morphology False Congenital anomaly Inferred relationship Some 2
    Transitional vertebra Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital spondylolisthesis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital absence of spine Associated morphology False Congenital anomaly Inferred relationship Some 2
    Atlanto-occipital malformation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypoplasia of spine Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital spondylolysis of lumbosacral region Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital deformity of sacroiliac joint Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital double lip Associated morphology False Congenital anomaly Inferred relationship Some 2
    Subependymal nodular heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 4
    Duane-radial ray syndrome Associated morphology False Congenital anomaly Inferred relationship Some 6
    Congenital anomaly of vertebral region of back Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hooded penis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital gingival granular cell tumour Associated morphology False Congenital anomaly Inferred relationship Some 2
    Gingival cyst of newborn Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital epulis of newborn Associated morphology False Congenital anomaly Inferred relationship Some 3
    Oral lymphangioma Associated morphology False Congenital anomaly Inferred relationship Some 3
    Bilateral complete and incomplete cleft lip Associated morphology False Congenital anomaly Inferred relationship Some 2
    Incomplete bilateral cleft lip Associated morphology False Congenital anomaly Inferred relationship Some 2
    Microstomia Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital ranula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Orofacial cleft Associated morphology False Congenital anomaly Inferred relationship Some 2

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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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