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724064004: 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
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
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
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
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
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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital anomaly of spine false Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital ptosis true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Finding site Structure of lumbosacral vertebrae false Inferred relationship Existential restriction modifier (core metadata concept) 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Associated morphology Congenital prolapse false Inferred relationship Existential restriction modifier (core metadata concept) 3
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Finding site Upper eyelid structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Finding site Upper eyelid structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Disorder of vertebral column (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Associated morphology Prolapse true Inferred relationship Existential restriction modifier (core metadata concept) 1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital anomaly of musculoskeletal structure of trunk true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital fusion of spine true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital anomaly of lower trunk true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Finding site Bone structure of vertebra of lumbosacral junction true Inferred relationship Existential restriction modifier (core metadata concept) 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Finding of vertebra (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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