724064004: syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos du dos\Finding of spinal region\Vertebral column finding\résultat concernant une vertèbre\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos du dos\affection du dos\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 (disorder)

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)

\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)

\Musculoskeletal finding\Vertebral column finding\affection du rachis\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Musculoskeletal finding\Vertebral column finding\résultat concernant une vertèbre\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\résultat concernant une vertèbre\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\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 (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\affection du dos\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 (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\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 (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital fusion of spine\Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)

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

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

760261000241111 syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

904341000172111 syndrome de Faulk-Epstein-Jones fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

983581000172111 syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	localisation d'une constatation (attribut)	paupière supérieure (structure corporelle)	true	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	affection du rachis	false	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	morphologie associée (attribut)	Prolapse	true	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of musculoskeletal structure of trunk	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Congenital fusion of spine	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of lower trunk	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	localisation d'une constatation (attribut)	Bone structure of vertebra of lumbosacral junction	true	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	résultat concernant une vertèbre	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of spine	false	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Congenital ptosis of upper eyelid	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	morphologie associée (attribut)	Congenital abnormal fusion	true	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	localisation d'une constatation (attribut)	Structure of lumbosacral vertebrae	false	Inferred relationship	Some	2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	morphologie associée (attribut)	Congenital prolapse	false	Inferred relationship	Some	3
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	localisation d'une constatation (attribut)	paupière supérieure (structure corporelle)	false	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
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
760261000241111	syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
904341000172111	syndrome de Faulk-Epstein-Jones	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
983581000172111	syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core