722439009: Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning 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\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT 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\EDICT syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\EDICT 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\EDICT syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\EDICT 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\EDICT 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\EDICT syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\EDICT syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\EDICT syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\EDICT syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\EDICT syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\EDICT 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\EDICT 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\EDICT syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\EDICT 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\EDICT 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\EDICT 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\EDICT syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\EDICT syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\EDICT syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3332079015 Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3332080017 Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome en Synonym Active Case insensitive SNOMED CT core

3332081018 EDICT syndrome en Synonym Active Case sensitive SNOMED CT core

3332082013 EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome en Synonym Active Case sensitive SNOMED CT core

3332083015 Autosomal dominant keratoconus with early-onset anterior polar cataract en Synonym Active Case insensitive SNOMED CT core

3332084014 Familial keratoconus with cataract en Synonym Active Case insensitive SNOMED CT core

3332085010 A very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy and iris hypoplasia. There is evidence this syndrome is caused by heterozygous mutation in the MIR184 gene on chromosome 15q25. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
EDICT syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
EDICT syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
EDICT syndrome	Is a	Congenital anomaly of anterior segment of eye	true	Inferred relationship	Some
EDICT syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
EDICT syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
EDICT syndrome	Is a	Irido-corneal dysgenesis	false	Inferred relationship	Some
EDICT syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
EDICT syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
EDICT syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
EDICT syndrome	Finding site	Anterior eyeball segment structure	true	Inferred relationship	Some	1

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
3332079015	Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3332080017	Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332081018	EDICT syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3332082013	EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3332083015	Autosomal dominant keratoconus with early-onset anterior polar cataract	en	Synonym	Active	Case insensitive	SNOMED CT core
3332084014	Familial keratoconus with cataract	en	Synonym	Active	Case insensitive	SNOMED CT core
3332085010	A very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy and iris hypoplasia. There is evidence this syndrome is caused by heterozygous mutation in the MIR184 gene on chromosome 15q25.	en	Definition	Active	Case sensitive	SNOMED CT core