128352002: Congenital structural abnormality of cornea (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)\Congenital structural abnormality of cornea
\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)\Congenital structural abnormality of cornea
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Corneal finding (finding)\Disorder of cornea\Congenital structural abnormality of cornea
\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)\Congenital structural abnormality of cornea
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea
\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)\Congenital structural abnormality of cornea
\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)\Congenital structural abnormality of cornea
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea
\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)\Congenital structural abnormality of cornea
\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)\Congenital structural abnormality of cornea
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea

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

\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)\Congenital structural abnormality of cornea
\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)\Congenital structural abnormality of cornea
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea
\Disease\Disorder of body system\Visual system disorder (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)\Congenital structural abnormality of cornea
\Disease\Disorder of body system\Visual system disorder (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)\Congenital structural abnormality of cornea
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea
\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)\Congenital structural abnormality of cornea
\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)\Congenital structural abnormality of cornea
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital structural abnormality of cornea	Is a	Disorder of cornea	true	Inferred relationship	Some
Congenital structural abnormality of cornea	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Congenital structural abnormality of cornea	Finding site	Corneal structure	true	Inferred relationship	Some	1
Congenital structural abnormality of cornea	Finding site	Orbital region structure	false	Inferred relationship	Some	1
Congenital structural abnormality of cornea	Occurrence	Congenital	false	Inferred relationship	Some
Congenital structural abnormality of cornea	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Congenital structural abnormality of cornea	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital structural abnormality of cornea	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital structural abnormality of cornea	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Congenital structural abnormality of cornea	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Congenital structural abnormality of cornea	Occurrence	Congenital	false	Inferred relationship	Some
Congenital structural abnormality of cornea	Is a	Congenital anomaly of anterior segment of eye (disorder)	true	Inferred relationship	Some
Congenital structural abnormality of cornea	Finding site	Corneal structure	false	Inferred relationship	Some	1
Congenital structural abnormality of cornea	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital structural abnormality of cornea	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital structural abnormality of cornea	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital structural abnormality of cornea	Finding site	Corneal structure	false	Inferred relationship	Some	2
Congenital structural abnormality of cornea	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital structural abnormality of cornea	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital structural abnormality of cornea	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cornea plana	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Embryotoxon	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital anterior staphyloma	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital corneal opacity	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital corneal opacity interfering with vision	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Microcornea	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Cornea globular	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital corneal opacity not interfering with vision	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital keratoconus (disorder)	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital sclerocornea	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital macular corneal dystrophy	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital keratoglobus	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Corneal size and shape anomalies	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Megalocornea	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Corneal size or shape anomalies NOS	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
[X]Other congenital corneal malformations	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Axenfeld anomaly	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Hutchinson's triad	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Keratoconus	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital keratoconus (disorder)	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital corneal keloid (disorder)	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital macular corneal dystrophy	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Francois syndrome	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital structural abnormality of bilateral corneas	Is a	False	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital dystrophy of cornea (disorder)	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital arcus juvenilis	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital structural abnormality of left cornea (disorder)	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some
Congenital structural abnormality of right cornea (disorder)	Is a	True	Congenital structural abnormality of cornea	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
206642014	Congenital anomaly of cornea	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474378016	Congenital corneal malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298093018	Congenital structural abnormality of cornea	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298094012	Congenital structural abnormality of cornea (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6061351000241114	anomalie congénitale de la cornée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6061361000241112	malformation cornéenne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
630351000274118	Kongenitale Fehlbildung der Kornea	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
630361000274115	Kongenitale Anomalie der Kornea	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module