FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

721075001: Short tarsus with absence of lower eyelashes syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323371014 Short tarsus with absence of lower eyelashes syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323372019 Short tarsus with absence of lower eyelashes syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323373012 Lopes Gorlin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402581010 Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402582015 Short tarsus - absence of lower eyelashes is a very rare syndrome characterised by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323371014 Short tarsus with absence of lower eyelashes syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323371014 Short tarsus with absence of lower eyelashes syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323372019 Short tarsus with absence of lower eyelashes syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323372019 Short tarsus with absence of lower eyelashes syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323373012 Lopes Gorlin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323374018 A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402581010 Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402582015 Short tarsus - absence of lower eyelashes is a very rare syndrome characterised by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
529131000274110 Lopes-Gorlin-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
564851000274119 Syndrom mit kurzem Tarsus und Fehlen der unteren Augenwimpern de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
897101000172112 syndrome de Lopes-Gorlin fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
967041000172116 syndrome de tarses palpébraux courts-absence de cils inférieurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
897101000172112 syndrome de Lopes-Gorlin fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
967041000172116 syndrome de tarses palpébraux courts-absence de cils inférieurs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
529131000274110 Lopes-Gorlin-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
564851000274119 Syndrom mit kurzem Tarsus und Fehlen der unteren Augenwimpern de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433311001000114 kurzer Tarsus - Fehlen der unteren Augenwimpern 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
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Longitudinal deficiency of tarsal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Congenital absence of eyelash true Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Finding site Entire eyelashes false Inferred relationship Existential restriction modifier (core metadata concept) 2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Finding site Any bone that is part of the tarsus false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Finding site Any bone that is part of the tarsus true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Finding site Entire eyelashes true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Congenital alopecia false Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Partial ablepharon false Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Is a Absence of eyelashes true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start