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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
85750017 Congenital coloboma of iris en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
85750017 Congenital coloboma of iris en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
789389011 Congenital coloboma of iris en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2717579017 Congenital coloboma of iris (disorder) en Fully specified name Active Only initial character 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
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
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
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
colobome congénital de l'iris Is a Congenital ocular coloboma true Inferred relationship Existential restriction modifier (core metadata concept)
colobome congénital de l'iris Is a Congenital anomaly of iris true Inferred relationship Existential restriction modifier (core metadata concept)
colobome congénital de l'iris Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
colobome congénital de l'iris Finding site Iris structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
colobome congénital de l'iris Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
colobome congénital de l'iris Is a Lesion of iris (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
colobome congénital de l'iris Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 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 colobome congénital de l'iris Inferred relationship Existential restriction modifier (core metadata concept)
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 True colobome congénital de l'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 True colobome congénital de l'iris Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic retinal disorder characterised 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 colobome congénital de l'iris Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a True colobome congénital de l'iris Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

REPLACED BY association reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

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