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724139004: Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498180013 Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498181012 Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498182017 Balikova Vermeesch syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499907019 Syndrome with the association of microtia, eye coloboma and imperforation of the nasolacrimal duct. So far, it has been described in only one family. The phenotype is associated with the presence of five copies of a copy-number-variable region (CNV) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission 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
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome survenue (attribut) congénital true Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome survenue (attribut) congénital true Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome morphologie associée (attribut) Congenital atresia (morphologic abnormality) true Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome localisation d'une constatation (attribut) canal nasolacrymal (structure corporelle) true Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) microtie (trouble) true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) Coloboma of eye true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) Atresia of nasolacrimal duct true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome morphologie associée (attribut) Congenital smallness true Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome survenue (attribut) congénital true Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome localisation d'une constatation (attribut) oreille externe (structure corporelle) true Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome survenue (attribut) congénital false Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome survenue (attribut) congénital false Inferred relationship Some 5
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 5
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome morphologie associée (attribut) Congenital atresia (morphologic abnormality) false Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome localisation d'une constatation (attribut) canal nasolacrymal (structure corporelle) false Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome morphologie associée (attribut) Congenital smallness false Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome localisation d'une constatation (attribut) oreille externe (structure corporelle) false Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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