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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
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
545761000274119 FHONDA-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393751001000112 Foveahypoplasie-Sehnervenkreuzung-Dysgenesie des vorderen Augensegmentes-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178241000241110 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) SNOMED CT Switzerland NRC maintained Module
6178251000241113 syndrome FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178261000241111 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) SNOMED CT Switzerland NRC maintained Module
6178241000241110 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) SNOMED CT Switzerland NRC maintained Module
6178251000241113 syndrome FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178261000241111 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) SNOMED CT Switzerland NRC maintained Module
545761000274119 FHONDA-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393751001000112 Foveahypoplasie-Sehnervenkreuzung-Dysgenesie des vorderen Augensegmentes-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
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Finding site Structure of fovea centralis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Irido-corneal dysgenesis false Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Congenital anomaly of central nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Optic chiasm disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Congenital hypoplasia of fovea centralis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Finding site Anterior eyeball segment structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Finding site Optic chiasma true Inferred relationship Existential restriction modifier (core metadata concept) 1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Congenital anomaly of anterior segment of eye (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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