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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

    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 anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Papillon-Lefèvre syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly - closed Associated morphology False Congenital anomaly Inferred relationship Some 3
    Iniencephaly - closed Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly - open Associated morphology False Congenital anomaly Inferred relationship Some 3
    Iniencephaly - open 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
    Vascular neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vascular neurocutaneous syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Morning glory disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Morning glory disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal hamartoma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinal hamartoma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of visual system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of visual system Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diplomyelia Associated morphology False Congenital anomaly Inferred relationship Some 2
    Diplomyelia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myeloschisis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Myeloschisis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Iniencephaly Associated morphology False Congenital anomaly Inferred relationship Some 3
    Iniencephaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Craniorachischisis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Craniorachischisis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Seckel syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Seckel syndrome Associated morphology False Congenital anomaly 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 Congenital anomaly 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 Congenital anomaly Inferred relationship Some 3
    Congenital absence of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital absence of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormal shape of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital abnormal shape of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital bent hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital hypoplasia of hyoid bone Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital hypoplasia of hyoid bone Associated morphology False Congenital anomaly 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 Congenital anomaly 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. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital blindness Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital blindness Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital strabismus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital strabismus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft, cyst or fistula; preauricular sinus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Some 2
    Cervicoaural fistula Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of nervous system of head/neck Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nervous system of head/neck Associated morphology False Congenital anomaly Inferred relationship Some 2
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Iniencephaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft, cyst or fistula preauricular anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Branchial cleft, cyst or fistula preauricular anomaly NOS Associated morphology False Congenital anomaly 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 Congenital anomaly 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 Congenital anomaly Inferred relationship Some 1
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Tilted optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tilted optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pit of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pit of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelinated nerve fibers of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myelinated nerve fibers of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Optic disc vascular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Optic disc vascular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Partial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 3
    Partial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Sectorial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 3
    Sectorial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Specified optic disc anomalies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Specified optic disc anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pharynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pharynx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypoplasia of the optic nerve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Hypoplasia of the optic nerve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Oligohydramnios sequence Associated morphology False Congenital anomaly Inferred relationship Some 2
    Oligohydramnios sequence Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of optic nerve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of optic nerve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of oral mucosa Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of oral mucosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ectopic oral gastrointestinal cyst Associated morphology False Congenital anomaly Inferred relationship Some 4
    Ectopic oral gastrointestinal cyst Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oral lymphangioma Associated morphology False Congenital anomaly Inferred relationship Some 3
    Oral lymphangioma Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial agenesis of pericardium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Partial agenesis of pericardium Associated morphology False Congenital anomaly Inferred relationship Some 2
    Pericardial diverticulum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pericardial diverticulum Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital abnormality of oral cavity Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital abnormality of oral cavity Associated morphology False Congenital anomaly Inferred relationship Some 2
    Gingival cyst of neonate (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Gingival cyst of neonate (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital epulis of newborn Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital epulis of newborn Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital gingival granular cell tumor Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital gingival granular cell tumor Associated morphology False Congenital anomaly Inferred relationship Some 1
    Venous anomaly of umbilical cord Associated morphology False Congenital anomaly Inferred relationship Some 2
    Venous anomaly of umbilical cord Associated morphology False Congenital anomaly Inferred relationship Some 1

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