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724064004: syndroom van posterieure fusie van lumbosacrale wervels en ptosis van ooglid (aandoening)


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
6371951000146116 syndroom van Faulk-Epstein-Jones nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7001031000146116 syndroom van posterieure fusie van lumbosacrale wervels en ptosis van ooglid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7001041000146112 syndroom van posterieure fusie van lumbosacrale wervels en ptosis van ooglid (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7050601000146118 syndroom van posterieure fusie van lumbosacrale wervels en blefaroptose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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


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 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 false 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 congenitale afwijkende fusie false Inferred relationship Some 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Finding site structuur van vertebra van lumbosacrale regio (lichaamsstructuur) false Inferred relationship Some 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Associated morphology congenitale ptosis (afwijkende morfologie) 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) false 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
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital fusion of spine true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Congenital anomaly of lower trunk true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Finding site Bone structure of vertebra of lumbosacral junction true Inferred relationship Some 2
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a Finding of vertebra true Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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