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65075004: Irido-corneal dysgenesis (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    108148017 Irido-corneal dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    108149013 Anterior segment dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    804538012 Irido-corneal dysgenesis (disorder) 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
    Irido-corneal dysgenesis Is a Congenital anomaly of eye false Inferred relationship Some
    Irido-corneal dysgenesis Is a Disorder of anterior segment of eye false Inferred relationship Some
    Irido-corneal dysgenesis Finding site Orbital region structure false Inferred relationship Some 1
    Irido-corneal dysgenesis Finding site Structure of nervous system (body structure) false Inferred relationship Some
    Irido-corneal dysgenesis Finding site Anterior eyeball segment structure false Inferred relationship Some 1
    Irido-corneal dysgenesis Occurrence Congenital false Inferred relationship Some
    Irido-corneal dysgenesis Associated morphology anomalie congénitale false Inferred relationship Some 1
    Irido-corneal dysgenesis Associated morphology anomalie congénitale false Inferred relationship Some 2
    Irido-corneal dysgenesis Finding site Eye structure false Inferred relationship Some 2
    Irido-corneal dysgenesis Associated morphology anomalie du développement false Inferred relationship Some 1
    Irido-corneal dysgenesis Associated morphology anomalie congénitale du développement false Inferred relationship Some 1
    Irido-corneal dysgenesis Is a Congenital anomaly of anterior segment of eye (disorder) false Inferred relationship Some
    Irido-corneal dysgenesis Finding site Anterior eyeball segment structure false Inferred relationship Some 1
    Irido-corneal dysgenesis Associated morphology anomalie congénitale du développement false Inferred relationship Some 1
    Irido-corneal dysgenesis Occurrence Congenital false Inferred relationship Some 2
    Irido-corneal dysgenesis Associated morphology anomalie du développement false Inferred relationship Some 2
    Irido-corneal dysgenesis Finding site Anterior eyeball segment structure false Inferred relationship Some 2
    Irido-corneal dysgenesis Occurrence Congenital false Inferred relationship Some 1
    Irido-corneal dysgenesis Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
    Irido-corneal dysgenesis Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Axenfeld-Rieger syndrome (disorder) Is a False Irido-corneal dysgenesis Inferred relationship Some
    A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. Is a False Irido-corneal dysgenesis Inferred relationship Some
    A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, occasionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. Is a False Irido-corneal dysgenesis Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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