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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
    280471000077112 anomalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie congénitale Is a Morphologically abnormal structure false Inferred relationship Some
    anomalie congénitale Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Stenosis of systemic to pulmonary artery collateral artery Associated morphology False anomalie congénitale Inferred relationship Some 2
    Stenosis of systemic to pulmonary artery collateral artery Associated morphology False anomalie congénitale Inferred relationship Some 1
    Stenosis of systemic to pulmonary artery collateral artery Associated morphology False anomalie congénitale Inferred relationship Some 3
    Patent ductus venosus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Patent ductus venosus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ductus venosus abnormality Associated morphology False anomalie congénitale Inferred relationship Some 2
    Ductus venosus abnormality Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital tracheomalacia Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital tracheomalacia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Exencephaly Associated morphology False anomalie congénitale Inferred relationship Some 3
    Exencephaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Exencephaly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Male epispadias (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Male epispadias (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Xeroderma, talipes and enamel defect syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 1
    Xeroderma, talipes and enamel defect syndrome (disorder) Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital disease and abnormality of heart, thoracic aorta and pericardium Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital disease and abnormality of heart, thoracic aorta and pericardium Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital disease and abnormality of heart, thoracic aorta and pericardium Associated morphology False anomalie congénitale Inferred relationship Some 3
    Venous-lymphatic malformation Associated morphology False anomalie congénitale Inferred relationship Some 3
    Venous-lymphatic malformation Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lack of ossification of mandible Associated morphology False anomalie congénitale Inferred relationship Some 2
    Lack of ossification of mandible Associated morphology False anomalie congénitale Inferred relationship Some 1
    Papillon-Lefèvre syndrome Associated morphology False anomalie congénitale Inferred relationship Some 1
    Papillon-Lefèvre syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False anomalie congénitale Inferred relationship Some 3
    Iniencephaly - closed Associated morphology False anomalie congénitale Inferred relationship Some 2
    Iniencephaly - open Associated morphology False anomalie congénitale Inferred relationship Some 1
    Iniencephaly - open Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False anomalie congénitale Inferred relationship Some 2
    Morning glory disc Associated morphology False anomalie congénitale Inferred relationship Some 1
    Morning glory disc Associated morphology False anomalie congénitale Inferred relationship Some 2
    Spinal hamartoma Associated morphology False anomalie congénitale Inferred relationship Some 1
    Spinal hamartoma Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of visual system Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of visual system Associated morphology False anomalie congénitale Inferred relationship Some 2
    Diplomyelia Associated morphology False anomalie congénitale Inferred relationship Some 2
    Diplomyelia Associated morphology False anomalie congénitale Inferred relationship Some 1
    Myeloschisis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Myeloschisis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Iniencephaly Associated morphology False anomalie congénitale Inferred relationship Some 3
    Iniencephaly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Craniorachischisis Associated morphology False anomalie congénitale Inferred relationship Some 1
    Craniorachischisis Associated morphology False anomalie congénitale Inferred relationship Some 2
    Seckel syndrome Associated morphology False anomalie congénitale Inferred relationship Some 2
    Seckel syndrome Associated morphology False anomalie congénitale 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 anomalie congénitale 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 anomalie congénitale Inferred relationship Some 3
    Congenital absence of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital absence of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital abnormal shape of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital abnormal shape of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital hypoplasia of hyoid bone Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital hypoplasia of hyoid bone Associated morphology False anomalie congénitale 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 anomalie congénitale 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 anomalie congénitale Inferred relationship Some 2
    Congenital blindness Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital blindness Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital strabismus Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital strabismus Associated morphology False anomalie congénitale Inferred relationship Some 3
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False anomalie congénitale Inferred relationship Some 1
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False anomalie congénitale Inferred relationship Some 2
    fistule cervico-auriculaire Associated morphology False anomalie congénitale Inferred relationship Some 2
    fistule cervico-auriculaire Associated morphology False anomalie congénitale Inferred relationship Some 3
    Congenital anomaly of nervous system of head/neck Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of nervous system of head/neck Associated morphology False anomalie congénitale Inferred relationship Some 2
    Iniencephaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 3
    Iniencephaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Branchial cleft, cyst or fistula preauricular anomaly NOS Associated morphology False anomalie congénitale Inferred relationship Some 1
    Branchial cleft, cyst or fistula preauricular anomaly NOS Associated morphology False anomalie congénitale 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 anomalie congénitale 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 anomalie congénitale Inferred relationship Some 2
    Tilted optic disc Associated morphology False anomalie congénitale Inferred relationship Some 1
    Tilted optic disc Associated morphology False anomalie congénitale Inferred relationship Some 2
    Pit of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 1
    Pit of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 1
    Myelinated nerve fibers of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 1
    Myelinated nerve fibers of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 2
    Optic disc vascular anomaly Associated morphology False anomalie congénitale Inferred relationship Some 1
    Optic disc vascular anomaly Associated morphology False anomalie congénitale Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 2
    Sectorial hypoplasia of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 1
    Sectorial hypoplasia of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 3
    Specified optic disc anomalies Associated morphology False anomalie congénitale Inferred relationship Some 1
    Specified optic disc anomalies Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 1
    Congenital anomaly of optic disc Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of pharynx Associated morphology False anomalie congénitale Inferred relationship Some 2
    Congenital anomaly of pharynx Associated morphology False anomalie congénitale Inferred relationship Some 1
    Hypoplasia of the optic nerve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Hypoplasia of the optic nerve Associated morphology False anomalie congénitale Inferred relationship Some 2
    Oligohydramnios sequence Associated morphology False anomalie congénitale Inferred relationship Some 2
    Oligohydramnios sequence Associated morphology False anomalie congénitale Inferred relationship Some 1

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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