5131000119107: Dermoid choristoma of eye proper (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

2990521012 Epibulbar dermoid en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2990547015 Dermoid choristoma of eye proper (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2990549017 Dermoid choristoma of eye proper en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dermoid choristoma of eye proper	Is a	Mass of eye structure	false	Inferred relationship	Some
Dermoid choristoma of eye proper	Associated morphology	Dermoid choristoma	false	Inferred relationship	Some	1
Dermoid choristoma of eye proper	Finding site	Eye structure	false	Inferred relationship	Some	1
Dermoid choristoma of eye proper	Is a	Disorder of eye proper (disorder)	false	Inferred relationship	Some
Dermoid choristoma of eye proper	Is a	Anomaly of eye (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cystic dermoid choristoma of conjunctiva	Is a	False	Dermoid choristoma of eye proper	Inferred relationship	Some
Cystic dermoid choristoma of cornea	Is a	False	Dermoid choristoma of eye proper	Inferred relationship	Some
A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital.	Is a	False	Dermoid choristoma of eye proper	Inferred relationship	Some
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.	Is a	False	Dermoid choristoma of eye proper	Inferred relationship	Some
Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.	Is a	False	Dermoid choristoma of eye proper	Inferred relationship	Some
Cystic dermoid choristoma of right eye proper	Is a	False	Dermoid choristoma of eye proper	Inferred relationship	Some
Cystic dermoid choristoma of left eye proper	Is a	False	Dermoid choristoma of eye proper	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)