FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.7  |  FHIR Version n/a  User: [n/a]

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 cyst of adrenal gland Associated morphology False Congenital anomaly Inferred relationship Some 2
    Carpenter's syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinobulbar atrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectopic thyroid tissue Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypothyroidism with ectopic thyroid Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital mandibular asymmetry Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital horizontal mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital vertical mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital transverse mandibular hyperplasia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital alveolar hyperplasia of mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital horizontal mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital vertical mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital transverse mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital alveolar hypoplasia of mandible Associated morphology False Congenital anomaly Inferred relationship Some 2
    21q partial distal trisomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    21q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multiple congenital anomalies Is a False Congenital anomaly Inferred relationship Some
    Congenital polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypomyelinating neuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Late congenital syphilitic polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Late secondary abnormalities of the central nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Multicystic encephalomalacia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Periventricular leucomalacia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuronal choristoma Associated morphology False Congenital anomaly Inferred relationship Some 1
    General fibrosis syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Strabismus fixus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vertical retraction syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital cholesteatoma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Structural anomaly of the cochlea and vestibular labyrinth Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete formation of the bony cochlea Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mondini defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dilatation of the vestibular aqueduct Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dilatation of semicircular canal Associated morphology False Congenital anomaly Inferred relationship Some 1
    Calcific aortic stenosis - bicuspid valve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Vascular neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Vascular neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Parkes Weber syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diffuse arteriovenous fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Arthrogryposis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sjögren-Larsson syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    8q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 11 syndrome Associated morphology False Congenital anomaly Inferred relationship Some 3
    20p partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomaly of chromosome X Associated morphology False Congenital anomaly Inferred relationship Some 1
    Total anomalous pulmonary venous return Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hydromyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Morning glory disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Bicuspid doming of aortic cusp Associated morphology False Congenital anomaly Inferred relationship Some 3
    Neural tube defect Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neural tube defect Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hemimyelocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hemimyelocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lipomeningocele Associated morphology False Congenital anomaly Inferred relationship Some 2
    Lipomeningocele Associated morphology False Congenital anomaly Inferred relationship Some 3
    Myelodysplasia of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelodysplasia of spinal cord Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal hamartoma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal hamartoma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuroenteric cyst and associated malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuroenteric cyst and associated malformation Associated morphology False Congenital anomaly Inferred relationship Some 2
    Neuroenteric cyst Associated morphology False Congenital anomaly Inferred relationship Some 2
    Neuroenteric cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormality of neurogenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Defect of telencephalic division Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absence of septum pellucidum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Reduction anomaly of hypothalamus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Disorder of neuronal migration and differentiation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Type 1 lissencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Miller Dieker syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Type 2 lissencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuronal heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Nodular heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Laminar heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cortical dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Localised cortical dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cortical dysplasia with hemimegalencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Early secondary malformation of the central nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Schizencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Colpocephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Microdysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dysgenesis of the cerebellum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Agenesis of cerebellum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Unilateral agenesis of cerebellum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aplasia of the vermis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Familial aplasia of the vermis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gillespie syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Granular cell hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cerebellar cortical dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dysgenesis of the brainstem Associated morphology False Congenital anomaly Inferred relationship Some 1
    Olive dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dentate dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Olivary heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chiari malformation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chiari malformation type I Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chiari malformation type III Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chiari malformation type IV Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormality of canalisation and retrogressive differentiation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Sacral dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lumbosacral agenesis Associated morphology False Congenital anomaly Inferred relationship Some 1

    Start Previous Page 47 of 124 Next End

    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

    Back to Start