722382006: Cataract and microcornea syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Cataract and microcornea syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cataract and microcornea syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Cataract and microcornea syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cataract and microcornea syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Cataract and microcornea syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Microcornea\Cataract and microcornea syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331769010 Cataract and microcornea syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331770011 Cataract and microcornea syndrome en Synonym Active Case insensitive SNOMED CT core

3331771010 The association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. The syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described. There is marked genetic heterogeneity. Mutations have been described in several crystallin genes (CRYAA, CRYBB1, CRYGD), and in the gap junction protein alpha 8 gene (GJA8). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cataract and microcornea syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cataract and microcornea syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cataract and microcornea syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cataract and microcornea syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Cataract and microcornea syndrome	Finding site	Corneal structure	true	Inferred relationship	Some	1
Cataract and microcornea syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	2
Cataract and microcornea syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	2
Cataract and microcornea syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cataract and microcornea syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Cataract and microcornea syndrome	Is a	Microcornea	true	Inferred relationship	Some
Cataract and microcornea syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Cataract and microcornea syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Cataract and microcornea syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Cataract and microcornea syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	2
Cataract and microcornea syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Cataract and microcornea syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Cataract and microcornea syndrome	Finding site	Corneal structure	false	Inferred relationship	Some	2
Cataract and microcornea syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	3
Cataract and microcornea syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331769010	Cataract and microcornea syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331770011	Cataract and microcornea syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331771010	The association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. The syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described. There is marked genetic heterogeneity. Mutations have been described in several crystallin genes (CRYAA, CRYBB1, CRYGD), and in the gap junction protein alpha 8 gene (GJA8).	en	Definition	Active	Case sensitive	SNOMED CT core