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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
    andre specificerede rygmarvsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    andre specificerede rygmarvsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    rygmarvsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    rygmarvsanomalier, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    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
    Spina bifida med hydrocephalus – lukket, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 2
    Spina bifida med hydrocephalus – lukket, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 4
    Spina bifida uden angivelse af hydrocephalus, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden angivelse af hydrocephalus, uspecificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida uden hydrocephalus – lukket, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden hydrocephalus – lukket, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    anden specificeret spina bifida uden hydrocefalus Associated morphology False kongenit anomali Inferred relationship Some 1
    anden specificeret spina bifida uden hydrocefalus Associated morphology False kongenit anomali Inferred relationship Some 3
    Spina bifida uden angivelse af hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 1
    Spina bifida uden angivelse af hydrocephalus, ikke nærmere specificeret Associated morphology False kongenit anomali Inferred relationship Some 3
    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 4
    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
    Hereditary neurocutaneous angiomata (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Hereditary neurocutaneous angiomata (disorder) 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 2
    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 3
    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 2
    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 1
    Congenital anomaly of pharynx Associated morphology False kongenit anomali Inferred relationship Some 2
    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 3
    Oligohydramnios sequence Associated morphology False kongenit anomali Inferred relationship Some 1
    Oligohydramnios sequence Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of optic nerve Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of optic nerve Associated morphology False kongenit anomali Inferred relationship Some 2
    Macerated fetus Associated morphology False kongenit anomali Inferred relationship Some 1
    Irido-corneo-trabecular dysgenesis Associated morphology False kongenit anomali Inferred relationship Some 2
    Otomandibular dysostosis Associated morphology False kongenit anomali Inferred relationship Some 3
    Intermandibular dysostosis Associated morphology False kongenit anomali Inferred relationship Some 3
    Maxillary dysostosis (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of oral mucosa Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital anomaly of oral mucosa Associated morphology False kongenit anomali Inferred relationship Some 2
    Ectopic oral gastrointestinal cyst Associated morphology False kongenit anomali Inferred relationship Some 3
    Ectopic oral gastrointestinal cyst Associated morphology False kongenit anomali Inferred relationship Some 4
    kongenitte forstyrrelser af øjen- og øjenlågsbevægelser Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital failure of eye elevation Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital nuclear ophthalmoplegia Associated morphology False kongenit anomali Inferred relationship Some 1
    Ear pit syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    Oral lymphangioma Associated morphology False kongenit anomali Inferred relationship Some 2
    Oral lymphangioma Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital anomaly of ear with impairment of hearing Associated morphology False kongenit anomali Inferred relationship Some 1
    Orbital dystopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Horizontal orbital dystopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Vertical orbital dystopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Rotational orbital dystopia Associated morphology False kongenit anomali Inferred relationship Some 1
    Foramen ovale valvar aneurysm Associated morphology False kongenit anomali Inferred relationship Some 2
    Partial agenesis of pericardium (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Partial agenesis of pericardium (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Pleuropericardial cyst Associated morphology False kongenit anomali Inferred relationship Some 2
    Pericardial diverticulum Associated morphology False kongenit anomali Inferred relationship Some 1
    Pericardial diverticulum Associated morphology False kongenit anomali Inferred relationship Some 2
    Harlequin fetus Associated morphology False kongenit anomali Inferred relationship Some 1
    Fetal postural deformity Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of oral cavity Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital abnormality of oral cavity Associated morphology False kongenit anomali Inferred relationship Some 2
    Manglende blodkar i navlesnoren Associated morphology False kongenit anomali Inferred relationship Some 1
    kongenitte labiale adhærencer Associated morphology False kongenit anomali Inferred relationship Some 2
    [X]Townes-Brocks syndrome Associated morphology False kongenit anomali Inferred relationship Some 1
    foetus compressus Associated morphology False kongenit anomali Inferred relationship Some 2
    Varix of umbilical vein (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Bohn's nodule (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Epstein's pearl of palate (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Gingival cyst of neonate (disorder) Associated morphology False kongenit anomali Inferred relationship Some 2
    Gingival cyst of neonate (disorder) Associated morphology False kongenit anomali Inferred relationship Some 3
    Duane's syndrome, type 1 (disorder) Associated morphology False kongenit anomali Inferred relationship Some 1
    Duane's syndrome, type 2 Associated morphology False kongenit anomali Inferred relationship Some 1
    Duane's syndrome, type 3 Associated morphology False kongenit anomali Inferred relationship Some 1
    Dysostosis of bone of skull Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of nose Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital heart disease Associated morphology False kongenit anomali Inferred relationship Some 1
    Aganglionosis of Auerbach's plexus Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital epulis of newborn Associated morphology False kongenit anomali Inferred relationship Some 3
    Congenital epulis of newborn Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital gingival granular cell tumor Associated morphology False kongenit anomali Inferred relationship Some 1
    Congenital gingival granular cell tumor Associated morphology False kongenit anomali Inferred relationship Some 2
    Congenital anomaly of eye Associated morphology False kongenit anomali Inferred relationship Some 1
    Retinal hemangioblastomatosis Associated morphology False kongenit anomali Inferred relationship Some 2
    frog fetus Associated morphology False kongenit anomali Inferred relationship Some 1
    Venous anomaly of umbilical cord Associated morphology False kongenit anomali Inferred relationship Some 1

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