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1179296003: Colobomatous macrophthalmia with microcornea syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4650607016 Colobomatous macrophthalmia with microcornea syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650608014 Colobomatous macrophthalmia with microcornea syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650917012 MACOM (macrophthalmia colobomatous with microcornea) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650606013 A rare genetic eye disease with characteristics of microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement or variable extent of coloboma among other features. 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
Colobomatous macrophthalmia with microcornea syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome (disorder) est un(e) (attribut) Microcornea true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome (disorder) est un(e) (attribut) Inherited optic neuropathy true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome (disorder) est un(e) (attribut) Congenital coloboma of optic disc true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome (disorder) est un(e) (attribut) Congenital coloboma of iris (disorder) true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome (disorder) est un(e) (attribut) Macrophthalmos true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) localisation d'une constatation (attribut) iris true Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) localisation d'une constatation (attribut) structure du disque du nerf optique true Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) localisation d'une constatation (attribut) cornée (structure corporelle) true Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Colobomatous macrophthalmia with microcornea syndrome (disorder) localisation d'une constatation (attribut) Entire eye true Inferred relationship Some 4
Colobomatous macrophthalmia with microcornea syndrome (disorder) morphologie associée (attribut) Enlargement (morphologic abnormality) true Inferred relationship Some 4
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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