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9446007: Coloboma of iris (disorder)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    16552011 Coloboma of iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    511312019 Notched iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    511313012 Congenital coloboma of iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    838409019 Coloboma of iris (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    16552011 Coloboma of iris en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    16552011 Coloboma of iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    511311014 Cleft iris en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    511312019 Notched iris en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    511312019 Notched iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    511313012 Congenital coloboma of iris en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    511313012 Congenital coloboma of iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    838409019 Coloboma of iris (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    838409019 Coloboma of iris (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
    Coloboma of iris Is a Disorder of iris false Inferred relationship Existential restriction modifier (core metadata concept)
    Coloboma of iris Finding site Iris structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Coloboma of iris Finding site Uveal tract structure false Inferred relationship Existential restriction modifier (core metadata concept)
    Coloboma of iris Is a Congenital ocular coloboma false Inferred relationship Existential restriction modifier (core metadata concept)
    Coloboma of iris Is a Congenital anomaly of iris false Inferred relationship Existential restriction modifier (core metadata concept)
    Coloboma of iris Associated morphology Defect false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Coloboma of iris Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Coloboma of iris Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Coloboma of iris Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
    Coloboma of iris Associated morphology Defect false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Coloboma of iris Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Coloboma of iris Finding site Iris structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
    Coloboma of iris Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Coloboma of iris Is a Disorder of iris false Inferred relationship Existential restriction modifier (core metadata concept)
    Coloboma of iris Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Coloboma of iris Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Coloboma of iris Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
    Coloboma of iris Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Coloboma of iris Finding site Iris structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Coloboma of iris Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
    Inbound Relationships Type Active Source Characteristic Refinability Group
    A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. Is a False Coloboma of iris Inferred relationship Existential restriction modifier (core metadata concept)
    Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. Is a False Coloboma of iris Inferred relationship Existential restriction modifier (core metadata concept)
    Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterised by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Is a False Coloboma of iris Inferred relationship Existential restriction modifier (core metadata concept)

    Reference Sets

    REPLACED BY association reference set (foundation metadata concept)

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