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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
    Other specified spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spinal cord anomalies NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinal cord anomalies NOS 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
    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
    Spina bifida with hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 2
    Spina bifida with hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 4
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus, unspecified Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without hydrocephalus - closed NOS Associated morphology False Congenital anomaly Inferred relationship Some 3
    Other specified spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified spina bifida without hydrocephalus Associated morphology False Congenital anomaly Inferred relationship Some 3
    Spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spina bifida without mention of hydrocephalus NOS Associated morphology False Congenital anomaly 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 Congenital anomaly 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 Congenital anomaly 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 Congenital anomaly Inferred relationship Some 2
    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 1
    Pit of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 2
    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 2
    Partial 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 1
    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 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 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 1
    Oligohydramnios sequence 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 optic nerve Associated morphology False Congenital anomaly Inferred relationship Some 2
    Macerated fetus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Irido-corneo-trabecular dysgenesis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Otomandibular dysostosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Intermandibular dysostosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Maxillary dysostosis Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of oral mucosa Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of oral mucosa Associated morphology False Congenital anomaly Inferred relationship Some 2
    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 4
    Congenital disorders of eye and eyelid movements Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital failure of eye elevation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital nuclear ophthalmoplegia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ear pit syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oral lymphangioma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Oral lymphangioma Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital anomaly of ear with impairment of hearing Associated morphology False Congenital anomaly Inferred relationship Some 1
    Orbital dystopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Horizontal orbital dystopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vertical orbital dystopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Rotational orbital dystopia (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Foramen ovale valvar aneurysm Associated morphology False Congenital anomaly Inferred relationship Some 2
    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
    Pleuropericardial cyst 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
    Harlequin fetus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fetal postural deformity Associated morphology False Congenital anomaly Inferred relationship Some 1
    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
    Absent blood vessel in umbilical cord Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital labial adhesions Associated morphology False Congenital anomaly Inferred relationship Some 2
    [X]Townes-Brocks syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fetus papyraceus Associated morphology False Congenital anomaly Inferred relationship Some 2
    Varix of umbilical vein (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Bohn's nodule (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Epstein's pearl of palate (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 1
    Gingival cyst of neonate (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 2
    Gingival cyst of neonate (disorder) Associated morphology False Congenital anomaly Inferred relationship Some 3
    Duane's syndrome, type 1 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 2 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Dysostosis of bone of skull Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of nose Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital heart disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    Aganglionosis of Auerbach's plexus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital epulis of newborn Associated morphology False Congenital anomaly Inferred relationship Some 3
    Congenital epulis of newborn Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital gingival granular cell tumor Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital gingival granular cell tumor Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    Retinal hemangioblastomatosis Associated morphology False Congenital anomaly Inferred relationship Some 2
    Frog fetus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Venous anomaly of umbilical cord Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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