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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
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
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
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
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
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
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Is a Microtia true Inferred relationship Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Is a Congenital ocular coloboma true Inferred relationship Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Is a Atresia of nasolacrimal duct true Inferred relationship Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Finding site External ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Finding site Nasolacrimal duct structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Finding site External ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Finding site Nasolacrimal duct structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 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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