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715771008: Microphthalmos co-occurrent with congenital ocular coloboma (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401085010 Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401086011 Colobomatous microphthalmia is a developmental disorder of the eye characterised by unilateral or bilateral microphthalmia associated with ocular coloboma. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303665016 Microphthalmos co-occurrent with congenital ocular coloboma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303666015 Colobomatous microphthalmia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303667012 Microphthalmos co-occurrent with congenital ocular coloboma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303668019 Microphthalmia with colobomatous cyst en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5476381000241113 microphtalmie concomitante à un colobome oculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601061000274118 Kolobomatöse Mikrophtalmie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601071000274114 Mikrophtalmie mit Kolobom-Zysten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Is a Microphthalmos true Inferred relationship Some
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Is a Congenital ocular coloboma (disorder) true Inferred relationship Some
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Occurrence Congenital false Inferred relationship Some 4
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site Eye structure false Inferred relationship Some 5
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Associated morphology Congenital failure of fusion false Inferred relationship Some 4
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site Eye structure false Inferred relationship Some 4
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Occurrence Congenital false Inferred relationship Some 3
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Associated morphology Defect false Inferred relationship Some 5
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Associated morphology Congenital smallness false Inferred relationship Some 3
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site œil entier false Inferred relationship Some 3
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Occurrence Congenital true Inferred relationship Some 1
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site Eye structure true Inferred relationship Some 1
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Associated morphology Congenital smallness false Inferred relationship Some 2
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Occurrence Congenital true Inferred relationship Some 2
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site œil entier false Inferred relationship Some 2
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site Entire eye proper true Inferred relationship Some 2
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. Is a True Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Inferred relationship Some
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. Is a True Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Inferred relationship Some
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Is a True Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Inferred relationship Some
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Is a True Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Inferred relationship Some

Reference Sets

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

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