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107656002: Congenital anomaly (morphologic abnormality)


    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Congenital anomaly Is a Developmental anomaly false Inferred relationship Existential restriction modifier

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Single congenital anomaly Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 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 Existential restriction modifier 2
    Tibial muscular dystrophy Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Tetrasomy 18p Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Patent vitelline duct Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Tubule of paroophoron Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Epoophoron Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Vitelline duct polyp Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Mitral valve dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Developmental anomaly of vitelline duct Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Tubule of epoophoron Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Duct of epoophoron Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Paroophoron Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Mitral leaflet dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Thyroglossal duct sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Acrosyndactyly of toe Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Prominent renal pelvis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital prelingual deafness Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Microdeletion of chromosome 15q13.3 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 6
    Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 6
    1q21.1 microdeletion syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Chromosome 1p36 deletion syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Chromosome 16p11.2 deletion syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Microdeletion of chromosome 15q24 Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    22q13.3 deletion syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    22q11.2 duplication syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Weissenbacher-Zweymuller syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Weissenbacher-Zweymuller syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 5
    Weissenbacher-Zweymuller syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 6
    Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 7
    Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 7
    Oculoskeletal dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Oculoskeletal dysplasia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Agenesis of enamel Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Shovel-shaped incisor Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 1
    Incomplete ossification of clavicle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypoplasia of clavicle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital pseudoarthrosis of clavicle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital abnormal shape of clavicle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital bent clavicle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital thickening of clavicle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cleidocranial dysostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 5
    Lack of ossification of clavicle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital deformity of clavicle Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Spinal dysgenesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Straight back syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of spine Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital spondylolisthesis of cervical vertebra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Congenital deformity of spine Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Excessive dental arch length Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Transitional vertebra Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital spondylolisthesis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital absence of spine Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Atlanto-occipital malformation Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Hypoplasia of spine Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Congenital spondylolysis of lumbosacral region Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Congenital deformity of sacroiliac joint Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital double lip Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Subependymal nodular heterotopia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Duane-radial ray syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 6
    Congenital anomaly of vertebral region of back Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Hooded penis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital gingival granular cell tumor Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Gingival cyst of neonate Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Congenital epulis of newborn Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Oral lymphangioma Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Bilateral complete and incomplete cleft lip Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Incomplete bilateral cleft lip Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Microstomia Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Congenital ranula Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Orofacial cleft Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cleft lip Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Cleft lip sequence Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormality of oral cavity Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Bilateral cleft lip Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Congenital phimosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Redundant prepuce Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Short preputial frenulum Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Central cleft lip Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Complete bilateral cleft lip Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Asymmetric maxillary arch Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Asymmetric mandibular arch form Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Repair of syndactyly with skin flap Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Repair of syndactyly with skin flap and graft Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 5
    Mosaic variegated aneuploidy syndrome Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier
    Congenital blepharophimosis of upper eyelid Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Congenital blepharophimosis of lower eyelid Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Glanular hypospadias Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Coronal hypospadias Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 4
    Congenital hydrosalpinx Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Persistent omphalomesenteric artery Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Epoophoron cyst Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Repair of persistant cloaca with lengthening of vagina Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Paratubal cyst arising in mesonephric duct Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Repair of persistant cloaca by sacroperineal approach Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Repair of persistant cloaca by abdominal and sacroperineal approach Direct morphology False Congenital anomaly Inferred relationship Existential restriction modifier 3
    Preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 2
    Complex craniosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 6
    Simple craniosynostosis Associated morphology False Congenital anomaly Inferred relationship Existential restriction modifier 6

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