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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
5403240013 This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403241012 This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
7611331000241110 syndrome de Balikova-Vermeesch fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7611341000241117 syndrome de microtie, colobome oculaire et imperforation du canal lacrymonasal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602751000274110 Balikova-Vermeesch-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415551001000114 Mikrotie-Augenkolobom-imperforierter nasolakrimaler Gang-Syndrom 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
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Is a Microtia true Inferred relationship Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Is a Multiple system malformation syndrome true Inferred relationship Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Is a Congenital ocular coloboma (disorder) true Inferred relationship Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Is a Atresia of nasolacrimal duct true Inferred relationship Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Is a Auditory system hereditary disorder true Inferred relationship Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Is a Hereditary disorder of the visual system true Inferred relationship Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Associated morphology Congenital smallness false Inferred relationship Some 3
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Occurrence Congenital true Inferred relationship Some 3
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Finding site External ear structure true Inferred relationship Some 3
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Occurrence Congenital false Inferred relationship Some 4
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Occurrence Congenital false Inferred relationship Some 5
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Finding site Eye structure false Inferred relationship Some 5
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Associated morphology Congenital atresia false Inferred relationship Some 3
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Finding site Nasolacrimal duct structure false Inferred relationship Some 3
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Associated morphology Congenital smallness false Inferred relationship Some 4
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Finding site External ear structure false Inferred relationship Some 4
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Occurrence Congenital true Inferred relationship Some 2
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Occurrence Congenital true Inferred relationship Some 1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Associated morphology Congenital atresia false Inferred relationship Some 1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Finding site Eye structure true Inferred relationship Some 2
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Finding site Nasolacrimal duct structure true Inferred relationship Some 1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Is a Developmental hereditary disorder true Inferred relationship Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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