246803005: Telecanthus (finding)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding (finding)\Telecanthus

\Eye / vision finding\Eyelid finding\Palpebral fissure finding (finding)\Telecanthus

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

368650016 Telecanthus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

636897011 Telecanthus (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7273491000241112 télécanthus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

615611000274114 Telekanthus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Telecanthus	Is a	Palpebral fissure finding	false	Inferred relationship	Some
Telecanthus	Finding site	Structure of palpebral fissure (body structure)	true	Inferred relationship	Some	1
Telecanthus	Is a	Palpebral fissure finding (finding)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	Is a	True	Telecanthus	Inferred relationship	Some
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.	Is a	True	Telecanthus	Inferred relationship	Some
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.	Is a	True	Telecanthus	Inferred relationship	Some

This concept is not in any reference sets