717915004: Blepharoptosis, myopia, ectopia lentis 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\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Eye / vision finding\Visual system disorder\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\Blepharoptosis, myopia, ectopia lentis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Congenital subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Blepharoptosis, myopia, ectopia lentis 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 subluxation of lens\Blepharoptosis, myopia, ectopia lentis syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3324394016 Blepharoptosis, myopia, ectopia lentis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3324396019 Blepharoptosis, myopia, ectopia lentis syndrome en Synonym Active Case insensitive SNOMED CT core

3324397011 This syndrome has characteristics of bilateral congenital blepharoptosis, ectopia lentis and high myopia. It has been described in three members of one family (in a mother and her two daughters). Transmission appears to be autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharoptosis, myopia, ectopia lentis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Blepharoptosis, myopia, ectopia lentis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Blepharoptosis, myopia, ectopia lentis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Blepharoptosis, myopia, ectopia lentis syndrome	Finding site	Upper eyelid structure	true	Inferred relationship	Some	1
Blepharoptosis, myopia, ectopia lentis syndrome	Associated morphology	Prolapse	true	Inferred relationship	Some	1
Blepharoptosis, myopia, ectopia lentis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Blepharoptosis, myopia, ectopia lentis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Blepharoptosis, myopia, ectopia lentis syndrome	Is a	Congenital ptosis	true	Inferred relationship	Some
Blepharoptosis, myopia, ectopia lentis syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Blepharoptosis, myopia, ectopia lentis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Blepharoptosis, myopia, ectopia lentis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Blepharoptosis, myopia, ectopia lentis syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	2
Blepharoptosis, myopia, ectopia lentis syndrome	Associated morphology	Congenital prolapse	false	Inferred relationship	Some	3
Blepharoptosis, myopia, ectopia lentis syndrome	Finding site	Upper eyelid structure	false	Inferred relationship	Some	3
Blepharoptosis, myopia, ectopia lentis syndrome	Is a	Severe myopia	true	Inferred relationship	Some
Blepharoptosis, myopia, ectopia lentis syndrome	Is a	Congenital subluxation of lens	true	Inferred relationship	Some
Blepharoptosis, myopia, ectopia lentis syndrome	Associated morphology	Congenital ectopia	true	Inferred relationship	Some	2

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
3324394016	Blepharoptosis, myopia, ectopia lentis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324396019	Blepharoptosis, myopia, ectopia lentis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324397011	This syndrome has characteristics of bilateral congenital blepharoptosis, ectopia lentis and high myopia. It has been described in three members of one family (in a mother and her two daughters). Transmission appears to be autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core