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715426004: X-linked corneal dermoid (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302577012 X-linked corneal dermoid (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302578019 X-linked corneal dermoid en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302579010 Guízar Vázquez Luengas Muñoz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400878018 X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400879014 X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial greyish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302577012 X-linked corneal dermoid (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302578019 X-linked corneal dermoid en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302579010 Guízar Vázquez Luengas Muñoz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302580013 An exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302581012 An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4636404018 An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial greyish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400878018 X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400879014 X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial greyish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
521511000274112 Guízar-Vázquez-Luengas-Muñoz-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
600951000274113 X-chromosomales korneales Dermoid de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886671000172114 syndrome de Guízar Vázquez-Luengas-Muñoz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
891001000172117 dermoïde cornéen lié à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886671000172114 syndrome de Guízar Vázquez-Luengas-Muñoz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
891001000172117 dermoïde cornéen lié à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
521511000274112 Guízar-Vázquez-Luengas-Muñoz-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
600951000274113 X-chromosomales korneales Dermoid de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421121001000116 Korneales Dermoid, X-chromosomales de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked corneal dermoid (disorder) Is a Cystic dermoid choristoma of cornea false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Associated morphology Cystic dermoid choristoma false Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked corneal dermoid (disorder) Finding site Corneal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked corneal dermoid (disorder) Is a Lesion of cornea (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Is a Dermoid choristoma of eye proper false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Associated morphology Dermoid choristoma false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked corneal dermoid (disorder) Finding site Corneal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked corneal dermoid (disorder) Is a Dermoid cyst of cornea (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Associated morphology Dermoid cyst true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked corneal dermoid (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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