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782754006: Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755623014 Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755624015 Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755625019 FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755626018 FHONDA syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755627010 A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
12143571000172119 syndrome d'hypoplasie fovéolaire, défaut de décussation du nerf optique et dysgénésie du segment antérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
12143581000172116 syndrome FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
12143591000172118 syndrome d'hypoplasie fovéolaire, défaut de décussation du deuxième nerf crânien et dysgénésie du segment antérieur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4851201000172113 FHONDA-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4851211000172111 syndroom van foveale hypoplasie, decussatiedefect van nervus opticus en congenitale afwijking van voorste oogsegment nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Finding site Structure of fovea centralis true Inferred relationship Some 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Irido-corneal dysgenesis false Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Congenital anomaly of central nervous system false Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Optic chiasm disorder true Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Congenital hypoplasia of fovea centralis (disorder) true Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Finding site Anterior eyeball segment structure true Inferred relationship Some 2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Finding site Structure of optic chiasma (body structure) true Inferred relationship Some 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Congenital anomaly of anterior segment of eye (disorder) true Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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