429449002: Congenital hypoplasia of fovea centralis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Disorder of macula of retina (disorder)\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2008. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2690878011 Congenital hypoplasia of fovea centralis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2693410016 Congenital hypoplasia of fovea centralis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2694076018 Congenital hypoplasia of fovea en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4358091000005119 kongenit fovea centralis-hypoplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypoplasia of fovea centralis (disorder)	Is a	Congenital anomaly of macula	true	Inferred relationship	Some
Congenital hypoplasia of fovea centralis (disorder)	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital hypoplasia of fovea centralis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital hypoplasia of fovea centralis (disorder)	Associated morphology	kongenit hypoplasi	false	Inferred relationship	Some	1
Congenital hypoplasia of fovea centralis (disorder)	Finding site	Structure of fovea centralis	false	Inferred relationship	Some	1
Congenital hypoplasia of fovea centralis (disorder)	Associated morphology	kongenit hypoplasi	false	Inferred relationship	Some	1
Congenital hypoplasia of fovea centralis (disorder)	Finding site	Structure of fovea centralis	true	Inferred relationship	Some	1
Congenital hypoplasia of fovea centralis (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital hypoplasia of fovea centralis (disorder)	Associated morphology	Hypoplasia	false	Inferred relationship	Some	2
Congenital hypoplasia of fovea centralis (disorder)	Finding site	Structure of fovea centralis	false	Inferred relationship	Some	2
Congenital hypoplasia of fovea centralis (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital hypoplasia of fovea centralis (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypoplasia of fovea centralis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic ocular disease with characteristics of congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life) and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Caused by heterozygous mutation in the PAX6 gene on chromosome 11p13.	Is a	True	Congenital hypoplasia of fovea centralis (disorder)	Inferred relationship	Some
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.	Is a	True	Congenital hypoplasia of fovea centralis (disorder)	Inferred relationship	Some

This concept is not in any reference sets