429448005: Congenital anomaly of anterior segment of eye (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 anterior segment of eye (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (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 anterior segment of eye (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (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 anterior segment of eye (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (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 anterior segment of eye (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (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 anterior segment of eye (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (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 anterior segment of eye (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of anterior segment of eye (disorder)	Is a	Disorder of anterior segment of eye	true	Inferred relationship	Some
Congenital anomaly of anterior segment of eye (disorder)	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Congenital anomaly of anterior segment of eye (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of anterior segment of eye (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of anterior segment of eye (disorder)	Finding site	Anterior eyeball segment structure (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of anterior segment of eye (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of anterior segment of eye (disorder)	Finding site	Anterior eyeball segment structure (body structure)	true	Inferred relationship	Some	1
Congenital anomaly of anterior segment of eye (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of anterior segment of eye (disorder)	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of anterior segment of eye (disorder)	Finding site	Anterior eyeball segment structure (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of anterior segment of eye (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of anterior segment of eye (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of anterior segment of eye (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Irido-corneo-trabecular dysgenesis	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Congenital anomaly of lens	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Congenital structural abnormality of cornea	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Congenital anomaly of iris	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Corneafragilitet, keratoglobus, blå sklera og hypermobile led	Is a	False	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Congenital anomaly of third eyelid	Is a	False	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Congenital anomaly of anterior chamber of eye	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Irido-cornea-dysgenese	Is a	False	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Multiple anterior segment anomalies	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Congenital conjunctival cyst	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.	Is a	True	Congenital anomaly of anterior segment of eye (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 anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Congenital symblepharon of bilateral conjunctivae (disorder)	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Ocular hypertension due to anterior segment anomaly	Due to	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some	3
Glaucoma due to anterior segment anomaly	Due to	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some	1
Glaucoma and corneal anomaly	Due to	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some	1
Congenital structural abnormality of ciliary body (disorder)	Is a	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some
Ocular hypertension of left eye due to anterior segment anomaly	Due to	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some	3
Ocular hypertension of right eye due to anterior segment anomaly (disorder)	Due to	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some	3
Bilateral ocular hypertension due to anterior segment anomaly	Due to	True	Congenital anomaly of anterior segment of eye (disorder)	Inferred relationship	Some	5

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2691429019	Congenital anomaly of anterior segment of eye (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2694771016	Congenital anomaly of anterior segment of eye	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780637012	Iridocorneal dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780639010	Dysgenesis of anterior segment of eye	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4358081000005117	kongenit anomali i forreste segment i øje	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)