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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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
3429732017 Faulk Epstein Jones syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation 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 GB English: Preferred (foundation metadata concept)
3983091000052116 syndrom med bakre sammanväxning av lumbosakrala kotor och ptos av ögonlock sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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 true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital anomaly of spine true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital ptosis (disorder) true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Associated morphology Congenital abnormal fusion true Inferred relationship Some 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Finding site Structure of lumbosacral vertebrae true Inferred relationship Some 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Associated morphology kongenital prolaps false Inferred relationship Some 3
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Finding site Upper eyelid structure false Inferred relationship Some 3
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) Occurrence Congenital 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) Finding site Upper eyelid structure true Inferred relationship Some 1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Disorder of vertebral column (disorder) true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Associated morphology Prolapse (morphologic abnormality) true Inferred relationship Some 1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital anomaly of musculoskeletal structure of trunk true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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