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400946004: Congenital fibrosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1768867010 Congenital fibrosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1780154019 Congenital fibrosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3010207014 Congenital fibrosis of extraocular muscles en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036156015 A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1768867010 Congenital fibrosis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1768867010 Congenital fibrosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1780154019 Congenital fibrosis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1780154019 Congenital fibrosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3010207014 Congenital fibrosis of extraocular muscles en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3010207014 Congenital fibrosis of extraocular muscles en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036156015 A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
526251000274116 Kongenitale extraokuläre Muskelfibrose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452511001000114 Extraokuläre Muskelfibrose, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
85111000077112 syndrome de fibrose congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
85111000077112 syndrome de fibrose congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
526251000274116 Kongenitale extraokuläre Muskelfibrose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452511001000114 Extraokuläre Muskelfibrose, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital fibrosis syndrome (disorder) Is a Mechanical strabismus false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Finding site Eye region structure false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of skeletal muscle (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a Congenital structural abnormality of orbit proper (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a Extraocular muscle restriction (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Associated morphology Mechanical abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Associated morphology Fibrosis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Interprets Ocular motility observable (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Associated morphology Fibrosis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital fibrosis syndrome (disorder) Associated morphology Fibrosis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital fibrosis syndrome (disorder) Is a Lesion of soft tissue (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of skeletal muscle (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a Congenital structural abnormality of orbit proper (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of ocular adnexa (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a External ophthalmoplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a Cranial nerve disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a Congenital strabismus true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Finding site Cranial nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital fibrosis syndrome (disorder) Is a Congenital ptosis true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Finding site Upper eyelid structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital fibrosis syndrome (disorder) Associated morphology Prolapse true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital fibrosis syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital fibrosis syndrome (disorder) Is a Lesion of skeletal muscle (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a Cranial nerve finding true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 5
Congenital fibrosis syndrome (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital fibrosis syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital fibrosis syndrome (disorder) Is a Lesion of face true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
General fibrosis syndrome Is a False Congenital fibrosis syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Strabismus fixus Is a False Congenital fibrosis syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Vertical retraction syndrome Is a True Congenital fibrosis syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis of inferior rectus muscle Is a True Congenital fibrosis syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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