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724139004: syndroom van microtie, oogcoloboom en imperforatie van ductus nasolacrimalis (aandoening)


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
6114601000146113 syndroom van Balikova-Vermeesch nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6730221000146112 syndroom van microtie, oogcoloboom en imperforatie van ductus nasolacrimalis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6730231000146114 syndroom van microtie, oogcoloboom en imperforatie van ductus nasolacrimalis (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a Microtia true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a Congenital ocular coloboma (disorder) true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a Atresia of nasolacrimal duct true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology congenitale kleinheid false Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Occurrence Congenital true Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Finding site External ear structure true Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Occurrence Congenital false Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Occurrence Congenital false Inferred relationship Some 5
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Finding site Eye structure false Inferred relationship Some 5
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology atresie (afwijkende morfologie) false Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Finding site Nasolacrimal duct structure false Inferred relationship Some 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology congenitale kleinheid false Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Finding site External ear structure false Inferred relationship Some 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
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 Occurrence Congenital 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 Occurrence Congenital 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 Associated morphology atresie (afwijkende morfologie) false Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Finding site Eye structure true Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Finding site Nasolacrimal duct structure true Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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