77797009: Hereditary corneal dystrophy (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)\Degenerative disorder of eye\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\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\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Corneal finding (finding)\Disorder of cornea\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Head finding (finding)\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\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\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Corneal finding (finding)\Disorder of cornea\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\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\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Eye / vision finding\Visual system disorder (disorder)\Hereditary disorder of the visual system\Hereditary corneal dystrophy

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary corneal dystrophy
\Disease\Degenerative disorder\Degenerative disorder of eye\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary corneal dystrophy
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\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\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Disease\Disorder of body system\Visual system disorder (disorder)\Hereditary disorder of the visual system\Hereditary corneal dystrophy
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration (disorder)\Corneal dystrophy\Hereditary corneal dystrophy

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
Hereditary corneal dystrophy	Is a	Corneal dystrophy	true	Inferred relationship	Some
Hereditary corneal dystrophy	Finding site	Corneal structure	true	Inferred relationship	Some	1
Hereditary corneal dystrophy	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Hereditary corneal dystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Hereditary corneal dystrophy	Finding site	Corneal structure	false	Inferred relationship	Some	1
Hereditary corneal dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Corneal dystrophy unspecified	Is a	False	Hereditary corneal dystrophy	Inferred relationship	Some
Combined corneal dystrophy	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Hereditary corneal dystrophy NOS	Is a	False	Hereditary corneal dystrophy	Inferred relationship	Some
Reis-Bucklers' corneal dystrophy	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Lattice corneal dystrophy (disorder)	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Polymorphous corneal dystrophy	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Congenital hereditary endothelial dystrophy (disorder)	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Fleck corneal dystrophy (disorder)	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Thiel-Behnke corneal dystrophy (disorder)	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Schnyder crystalline cornea dystrophy (disorder)	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Congenital stromal corneal dystrophy (disorder)	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Macular corneal dystrophy	Is a	True	Hereditary corneal dystrophy	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	True	Hereditary corneal dystrophy	Inferred relationship	Some
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss.	Is a	False	Hereditary corneal dystrophy	Inferred relationship	Some
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.	Is a	True	Hereditary corneal dystrophy	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	True	Hereditary corneal dystrophy	Inferred relationship	Some
Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Francois syndrome	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
A rare ophthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Juvenile epithelial corneal dystrophy (disorder)	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Gelatinous droplike corneal dystrophy (disorder)	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Granular corneal dystrophy	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
Hereditary dystrophy of cornea of bilateral eyes (disorder)	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose.	Is a	True	Hereditary corneal dystrophy	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
129114016	Hereditary corneal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
818666013	Hereditary corneal dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1838381000195115	distrofia corneale ereditaria	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4644071000241114	dystrophie de la cornée héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
543031000274111	Erbliche Hornhautdystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
572331000274119	Hereditäre Hornhautdystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module