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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
    2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit anomali Is a Morphologically abnormal structure false Inferred relationship Some
    kongenit anomali Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Stenosis of systemic to pulmonary artery collateral artery (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Stenosis of systemic to pulmonary artery collateral artery (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Stenosis of systemic to pulmonary artery collateral artery (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Patent ductus venosus Associated morphology False kongenit anomali Inferred relationship Some 2
    Patent ductus venosus Associated morphology False kongenit anomali Inferred relationship Some 1
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Ductus venosus abnormality Associated morphology False kongenit anomali Inferred relationship Some 2
    Ductus venosus abnormality Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital tracheomalacia Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital tracheomalacia Associated morphology False kongenit anomali Inferred relationship Some 1
    Exencephaly Associated morphology False kongenit anomali Inferred relationship Some 3
    Exencephaly Associated morphology False kongenit anomali Inferred relationship Some 1
    Exencephaly Associated morphology False kongenit anomali Inferred relationship Some 2
    Male epispadias (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Male epispadias (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    XTE syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    XTE syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    kongenit sygdom og abnormitet af hjertet, pars thoracica aortae og perikardiet Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit sygdom og abnormitet af hjertet, pars thoracica aortae og perikardiet Associated morphology False kongenit anomali Inferred relationship Some 2
    kongenit sygdom og abnormitet af hjertet, pars thoracica aortae og perikardiet Associated morphology False kongenit anomali Inferred relationship Some 3
    Venous-lymphatic malformation Associated morphology False kongenit anomali Inferred relationship Some 3
    Venous-lymphatic malformation Associated morphology False kongenit anomali Inferred relationship Some 2
    Lack of ossification of mandible Associated morphology False kongenit anomali Inferred relationship Some 2
    Lack of ossification of mandible Associated morphology False kongenit anomali Inferred relationship Some 1
    Papillon-Lefèvre syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Papillon-Lefèvre syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False kongenit anomali Inferred relationship Some 3
    Iniencephaly - closed Associated morphology False kongenit anomali Inferred relationship Some 2
    Iniencephaly - open Associated morphology False kongenit anomali Inferred relationship Some 1
    Iniencephaly - open Associated morphology False kongenit anomali Inferred relationship Some 2
    kongenit neuropati med kongenit multipel artrogrypose Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenit neuropati med kongenit multipel artrogrypose Associated morphology False kongenit anomali Inferred relationship Some 2
    Morning glory disc Associated morphology False kongenit anomali Inferred relationship Some 1
    Morning glory disc Associated morphology False kongenit anomali Inferred relationship Some 2
    Spinal hamartoma Associated morphology False kongenit anomali Inferred relationship Some 1
    Spinal hamartoma Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of visual system Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of visual system Associated morphology False kongenit anomali Inferred relationship Some 2
    Diplomyelia Associated morphology False kongenit anomali Inferred relationship Some 2
    Diplomyelia Associated morphology False kongenit anomali Inferred relationship Some 1
    Myeloschisis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Myeloschisis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Iniencephaly (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Iniencephaly (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Craniorachischisis Associated morphology False kongenit anomali Inferred relationship Some 1
    Craniorachischisis Associated morphology False kongenit anomali Inferred relationship Some 2
    Seckel syndrome Associated morphology False kongenit anomali Inferred relationship Some 2
    Seckel syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Associated morphology False kongenit anomali Inferred relationship Some 2
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital absence of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital absence of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital abnormal shape of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital abnormal shape of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital hypoplasia of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital hypoplasia of hyoid bone Associated morphology False kongenit anomali Inferred relationship Some 1
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology False kongenit anomali Inferred relationship Some 1
    Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital blindness Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital blindness Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital strabismus Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital strabismus Associated morphology False kongenit anomali Inferred relationship Some 3
    brankialfure, -cyste eller -fistel; præaurikulær sinus Associated morphology False kongenit anomali Inferred relationship Some 1
    brankialfure, -cyste eller -fistel; præaurikulær sinus Associated morphology False kongenit anomali Inferred relationship Some 2
    cervikoaural fistel Associated morphology False kongenit anomali Inferred relationship Some 2
    cervikoaural fistel Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of nervous system of head/neck Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of nervous system of head/neck Associated morphology False kongenit anomali Inferred relationship Some 2
    iniencefali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    iniencefali, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    anden og uspecificeret præaurikulær anomali i form af brankialfure, -cyste eller -fistel Associated morphology False kongenit anomali Inferred relationship Some 1
    anden og uspecificeret præaurikulær anomali i form af brankialfure, -cyste eller -fistel Associated morphology False kongenit anomali Inferred relationship Some 2
    præaurikulær anomali af brankialfure, -cyste eller -fistel, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    præaurikulær anomali af brankialfure, -cyste eller -fistel, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Associated morphology False kongenit anomali Inferred relationship Some 1
    A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Associated morphology False kongenit anomali Inferred relationship Some 2
    Tilted optic disc Associated morphology False kongenit anomali Inferred relationship Some 1
    Tilted optic disc Associated morphology False kongenit anomali Inferred relationship Some 2
    synsnervepapilhul Associated morphology False kongenit anomali Inferred relationship Some 1
    synsnervepapilhul Associated morphology False kongenit anomali Inferred relationship Some 1
    Myelinated nerve fibers of optic disc Associated morphology False kongenit anomali Inferred relationship Some 1
    Myelinated nerve fibers of optic disc Associated morphology False kongenit anomali Inferred relationship Some 2
    vaskulær anomali af synsnervepapil Associated morphology False kongenit anomali Inferred relationship Some 1
    vaskulær anomali af synsnervepapil Associated morphology False kongenit anomali Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False kongenit anomali Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False kongenit anomali Inferred relationship Some 2
    Sectorial hypoplasia of optic disc (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Sectorial hypoplasia of optic disc (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Specificeret anomali i synsnervepapil Associated morphology False kongenit anomali Inferred relationship Some 1
    Specificeret anomali i synsnervepapil Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of optic disc Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of optic disc Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of pharynx Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of pharynx Associated morphology False kongenit anomali Inferred relationship Some 1
    Hypoplasia of the optic nerve (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Hypoplasia of the optic nerve (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Oligohydramnios sequence Associated morphology False kongenit anomali Inferred relationship Some 2
    Oligohydramnios sequence Associated morphology False kongenit anomali Inferred relationship Some 1

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