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716166002: Microcornea with glaucoma and absent frontal sinus syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304944017 Microcornea with glaucoma and absent frontal sinus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304945016 Microcornea with glaucoma and absent frontal sinus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401238014 A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401239018 A rare developmental defect during embryogenesis syndrome characterised by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304944017 Microcornea with glaucoma and absent frontal sinus syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304944017 Microcornea with glaucoma and absent frontal sinus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304945016 Microcornea with glaucoma and absent frontal sinus syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304945016 Microcornea with glaucoma and absent frontal sinus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304946015 This syndrome has features of microcornea, glaucoma and absent frontal sinuses. Less than 10 cases have been described so far. The mode of transmission appears to be autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401238014 A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401239018 A rare developmental defect during embryogenesis syndrome characterised by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420391001000110 Mikrokornea-Glaukom-fehlende Stirnhöhlen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5476981000241112 syndrome de microcornée avec glaucome et absence de sinus frontal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5476981000241112 syndrome de microcornée avec glaucome et absence de sinus frontal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420391001000110 Mikrokornea-Glaukom-fehlende Stirnhöhlen-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
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a Microcornea true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a Disorder of frontal sinus (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a Congenital anomaly of nasal sinuses (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a Angeborenes Glaukom true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a Congenital absence false Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Finding site Corneal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Finding site Frontal sinus structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Finding site Frontal sinus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Finding site Corneal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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