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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
    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 1
    Other and unspecified branchial cleft, cyst or fistula preauricular anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    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
    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 2
    Sectorial hypoplasia of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 3
    Specified optic disc anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Specified optic disc anomalies 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 optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of pharynx Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of pharynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Hypoplasia of the optic nerve Associated morphology False Congenital anomaly Inferred relationship Some 3
    Hypoplasia of the optic nerve Associated morphology False Congenital anomaly Inferred relationship Some 2
    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 3
    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 1
    Gingival cyst of neonate (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    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
    Congenital anomaly of pericardium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of pericardium Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital ranula (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital ranula (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other mouth anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other mouth anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Congenital malformations of palate, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations of palate, not elsewhere classified Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of mouth Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of mouth Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other mouth anomalies Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other mouth anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital pericardial defect (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital pericardial defect (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Omphalocele with obstruction Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital omphalocele Associated morphology False Congenital anomaly Inferred relationship Some 4
    Hepatomphalocele Associated morphology False Congenital anomaly Inferred relationship Some 4
    Congenital keratoconus (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital keratoconus posticus circumscriptus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Beckwith-Wiedemann syndrome Associated morphology False Congenital anomaly Inferred relationship Some 5
    Anterior lentiglobus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Omphalocele with gangrene Associated morphology False Congenital anomaly Inferred relationship Some 4
    Omphalocele - irreducible Associated morphology False Congenital anomaly Inferred relationship Some 4
    Simple omphalocele Associated morphology False Congenital anomaly Inferred relationship Some 4
    Unspecified omphalocele Associated morphology False Congenital anomaly Inferred relationship Some 4
    [X]Other congenital malformations of trachea Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other congenital malformations of trachea Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of bronchus Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Other congenital malformations of bronchus Associated morphology False Congenital anomaly Inferred relationship Some 1
    On examination - funnel chest Associated morphology False Congenital anomaly Inferred relationship Some 2
    On examination - funnel chest Associated morphology False Congenital anomaly Inferred relationship Some 1
    Angelman syndrome Associated morphology False Congenital anomaly Inferred relationship Some 2
    Angelman syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida with hydrocephalus of late onset Associated morphology False Congenital anomaly Inferred relationship Some 2
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 2
    Axenfeld anomaly Associated morphology False Congenital anomaly Inferred relationship Some 3
    Levoatrial cardinal vein Associated morphology False Congenital anomaly Inferred relationship Some 1
    Levoatrial cardinal vein Associated morphology False Congenital anomaly Inferred relationship Some 2

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