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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Disorder of vertebral column (disorder)\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Finding of back (finding)\Finding of spinal region\Vertebral column finding\Finding of vertebra\Lesion of vertebra (finding)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Finding of back (finding)\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Finding of back (finding)\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Eye / vision finding\Visual system disorder (disorder)\Hereditary disorder of the visual system\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column (disorder)\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Musculoskeletal finding\Vertebral column finding\Finding of vertebra\Lesion of vertebra (finding)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Musculoskeletal finding\Bone finding\Finding of vertebra\Lesion of vertebra (finding)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Visual system disorder (disorder)\Hereditary disorder of the visual system\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of vertebral column (disorder)\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of back including back of neck.\Disorder of spinal region (disorder)\Disorder of vertebral column (disorder)\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Disorder of back including back of neck.\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Developmental hereditary disorder\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5403204011 A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403205012 A rare syndrome characterised by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3429730013 Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3429731012 Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3429732017 Faulk Epstein Jones syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

904341000172111 syndrome de Faulk-Epstein-Jones fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

983581000172111 syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

535291000274117 Syndrom mit Wirbelfusion und hinterer lumbo-sakraler Blepharoptose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3437091001000111 Wirbelfusion, hintere lumbo-sakrale - Blepharoptose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Congenital anomaly of spine	false	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Congenital ptosis (disorder)	true	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Occurrence	Congenital	true	Inferred relationship	Some	2
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Occurrence	Congenital	false	Inferred relationship	Some	3
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	2
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Finding site	Structure of lumbosacral vertebrae	false	Inferred relationship	Some	2
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Associated morphology	Congenital prolapse	false	Inferred relationship	Some	3
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Finding site	Upper eyelid structure	false	Inferred relationship	Some	3
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Finding site	Upper eyelid structure	true	Inferred relationship	Some	1
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Disorder of vertebral column (disorder)	false	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Associated morphology	Prolapse	true	Inferred relationship	Some	1
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Congenital anomaly of musculoskeletal structure of trunk	true	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Congenital fusion of spine	true	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Congenital anomaly of lower trunk	true	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Finding site	Bone structure of vertebra of lumbosacral junction	true	Inferred relationship	Some	2
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Finding of vertebra	false	Inferred relationship	Some
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Associated morphology	Fusion that has occurred in a structure that is not normally fused.	true	Inferred relationship	Some	2
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Is a	Lesion of vertebra (finding)	true	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
5403204011	A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403205012	A rare syndrome characterised by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429730013	Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429731012	Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3429732017	Faulk Epstein Jones syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
904341000172111	syndrome de Faulk-Epstein-Jones	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
983581000172111	syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
535291000274117	Syndrom mit Wirbelfusion und hinterer lumbo-sakraler Blepharoptose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3437091001000111	Wirbelfusion, hintere lumbo-sakrale - Blepharoptose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module