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51485001: Congenital coloboma of iris (disorder)

Status: current, 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
85750017 Congenital coloboma of iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2717579017 Congenital coloboma of iris (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3497054012 Cleft iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3497055013 Notched iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4557931000241114 colobome congénital de l'iris fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
644561000274118 Kongenitales Iriskolobom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
644571000274114 Kongenitales Kolobom der Iris de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434381001000115 Iriskolobom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital coloboma of iris Is a Congenital ocular coloboma (disorder) true Inferred relationship Some
Congenital coloboma of iris Is a Congenital anomaly of iris true Inferred relationship Some
Congenital coloboma of iris Occurrence Congenital true Inferred relationship Some 1
Congenital coloboma of iris Finding site Iris structure (body structure) true Inferred relationship Some 1
Congenital coloboma of iris Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Congenital coloboma of iris Is a Lesion of iris (disorder) true Inferred relationship Some
Congenital coloboma of iris Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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 True Congenital coloboma of iris Inferred relationship Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized 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 True Congenital coloboma of iris Inferred relationship Some
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized 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 True Congenital coloboma of iris Inferred relationship Some
A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated. Is a True Congenital coloboma of iris Inferred relationship Some
A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features. Is a True Congenital coloboma of iris Inferred relationship Some

This concept is not in any reference sets

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