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1179296003: Colobomatous macrophthalmia with microcornea syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
4650608014 Colobomatous macrophthalmia with microcornea syndrome en Synonym Active Case insensitive SNOMED CT core
4650917012 MACOM (macrophthalmia colobomatous with microcornea) syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Colobomatous macrophthalmia with microcornea syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome Is a Microcornea true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome Is a Inherited optic neuropathy true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome Is a Congenital coloboma of optic disc true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome Is a Congenital coloboma of iris true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome Is a Macrophthalmos true Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome Occurrence Congenital true Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome Finding site Iris structure true Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome Occurrence Congenital true Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome Finding site Optic disc structure true Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome Occurrence Congenital true Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome Finding site Corneal structure true Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome Associated morphology Congenital smallness true Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome Occurrence Congenital true Inferred relationship Some 4
Colobomatous macrophthalmia with microcornea syndrome Finding site Entire eye true Inferred relationship Some 4
Colobomatous macrophthalmia with microcornea syndrome Associated morphology Enlargement true Inferred relationship Some 4
Colobomatous macrophthalmia with microcornea syndrome Pathological process Pathological developmental process true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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