724064004: Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Finding of vertebra\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

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

\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis 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\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Musculoskeletal finding\Vertebral column finding\Finding of vertebra\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Musculoskeletal finding\Bone finding\Finding of vertebra\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Posterior fusion of lumbosacral vertebrae and blepharoptosis 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\Posterior fusion of lumbosacral vertebrae and blepharoptosis 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\Posterior fusion of lumbosacral vertebrae and blepharoptosis 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\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Posterior fusion of lumbosacral vertebrae and blepharoptosis 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\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3429730013 Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3429731012 Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome en Synonym Active Case insensitive SNOMED CT core

3429732017 Faulk Epstein Jones syndrome en Synonym Active Case sensitive SNOMED CT core

3429733010 Syndrome with characteristics of congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Serum lactic dehydrogenase activity was elevated in the mother and 1 daughter. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Finding site	Upper eyelid structure	true	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Disorder of vertebral column	false	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Associated morphology	Prolapse	true	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Congenital anomaly of musculoskeletal structure of trunk	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Congenital fusion of spine	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Congenital anomaly of lower trunk	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Finding site	Bone structure of vertebra of lumbosacral junction	true	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Finding of vertebra	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Congenital anomaly of spine	false	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Congenital ptosis	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Finding site	Structure of lumbosacral vertebrae	false	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Associated morphology	Congenital prolapse	false	Inferred relationship	Some	3
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	Finding site	Upper eyelid structure	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

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3429730013	Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3429731012	Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3429732017	Faulk Epstein Jones syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3429733010	Syndrome with characteristics of congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. Serum lactic dehydrogenase activity was elevated in the mother and 1 daughter.	en	Definition	Active	Case sensitive	SNOMED CT core