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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
5881951000172117 syndrome de fibrose congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4502661000172111 CFEOM nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4502671000172119 aangeboren fibrose van extraoculaire spieren nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4502681000172116 congenitale fibrose van extraoculaire spieren nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


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 Some
Congenital fibrosis syndrome (disorder) Finding site Eye region structure (body structure) false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of skeletal muscle false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of orbit false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a Extraocular muscle restriction (disorder) true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Occurrence Congenital false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Associated morphology Mechanical abnormality false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Associated morphology Fibrosis false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Interprets Ocular motility observable false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Has interpretation Abnormal false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Is a Congenital disease (disorder) false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Associated morphology Fibrosis true Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) Associated morphology Fibrosis false Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle false Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) Is a Soft tissue lesion false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of skeletal muscle true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of orbit true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Finding site Structure of extraocular muscle true Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) Is a Congenital anomaly of ocular adnexa (disorder) false Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a External ophthalmoplegia true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a Cranial nerve disorder true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a Genetic disease true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a Congenital strabismus true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Finding site Cranial nerve structure true Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) Is a Congenital ptosis (disorder) true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Finding site Upper eyelid structure true Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) Associated morphology Prolapse (morphologic abnormality) true Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) Is a Lesion of skeletal muscle (disorder) true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a Cranial nerve finding true Inferred relationship Some
Congenital fibrosis syndrome (disorder) Interprets Movement true Inferred relationship Some 5
Congenital fibrosis syndrome (disorder) Interprets Movement observable true Inferred relationship Some 4
Congenital fibrosis syndrome (disorder) Has interpretation Absent true Inferred relationship Some 4

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

This concept is not in any reference sets

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