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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
5399486018 A rare genetic eye disease characterized by 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
5399487010 A rare genetic eye disease characterised by 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
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
5399486018 A rare genetic eye disease characterized by 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
5399487010 A rare genetic eye disease characterised by 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
592261000274113 MACOM-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416771001000116 Kolobomatöse Makrophthalmie-Mikrokornea-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897751000241115 syndrome de macrophtalmie colobomateuse et microcornée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897761000241117 syndrome MACOM (macrophtalmie colobomateuse et microcornée) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897751000241115 syndrome de macrophtalmie colobomateuse et microcornée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5897761000241117 syndrome MACOM (macrophtalmie colobomateuse et microcornée) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
592261000274113 MACOM-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416771001000116 Kolobomatöse Makrophthalmie-Mikrokornea-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
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a Microcornea true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a Inherited optic neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a Congenital coloboma of optic disc true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a colobome congénital de l'iris true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a Macrophthalmos true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Finding site Iris structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) Finding site Optic disc structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) Finding site Corneal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Colobomatous macrophthalmia with microcornea syndrome (disorder) Finding site œil entier false Inferred relationship Existential restriction modifier (core metadata concept) 4
Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Colobomatous macrophthalmia with microcornea syndrome (disorder) Finding site Entire eye proper true Inferred relationship Existential restriction modifier (core metadata concept) 4
Colobomatous macrophthalmia with microcornea 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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