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721075001: syndrome de tarses palpébraux courts-absence de cils inférieurs (trouble)


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
756901000241113 syndrome de tarses palpébraux courts-absence de cils inférieurs (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
897101000172112 syndrome de Lopes-Gorlin fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short tarsus with absence of lower eyelashes syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) localisation d'une constatation (attribut) Entire eyelashes true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Congenital alopecia false Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Partial ablepharon false Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) anomalie longitudinale d'un os du tarse true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Congenital absence of eyelash true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) localisation d'une constatation (attribut) Entire eyelashes false Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 3
Short tarsus with absence of lower eyelashes syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Short tarsus with absence of lower eyelashes syndrome (disorder) localisation d'une constatation (attribut) Entire tarsal bone false Inferred relationship Some 3
Short tarsus with absence of lower eyelashes syndrome (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 2
Short tarsus with absence of lower eyelashes syndrome (disorder) localisation d'une constatation (attribut) Entire tarsal bone true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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