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400946004: syndrome de fibrose congénitale (trouble)


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
707901000077115 syndrome de fibrose congénitale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
85111000077112 syndrome de fibrose congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital fibrosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Congenital anomaly of ocular adnexa false Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) External ophthalmoplegia true Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Cranial nerve disorder true Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Genetic disease true Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Congenital strabismus true Inferred relationship Some
Congenital fibrosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) 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) est un(e) (attribut) Congenital ptosis of upper eyelid true Inferred relationship Some
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) paupière supérieure (structure corporelle) true Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) morphologie associée (attribut) Prolapse true Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Mechanical strabismus (disorder) false Inferred relationship Some
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Eye region structure (body structure) false Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal muscle false Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Congenital anomaly of orbit proper (disorder) false Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Extraocular muscle restriction (disorder) true Inferred relationship Some
Congenital fibrosis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) morphologie associée (attribut) Mechanical abnormality false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) morphologie associée (attribut) Fibrosis false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) interprète (attribut) Ocular motility observable false Inferred relationship Some
Congenital fibrosis syndrome (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 2
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Congenital disease false Inferred relationship Some
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) morphologie associée (attribut) Fibrosis true Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) morphologie associée (attribut) Fibrosis false Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle false Inferred relationship Some 3
Congenital fibrosis syndrome (disorder) est un(e) (attribut) lésion de tissu mou true Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal muscle true Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Congenital anomaly of orbit proper (disorder) true Inferred relationship Some
Congenital fibrosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of extraocular muscle true Inferred relationship Some 1
Congenital fibrosis syndrome (disorder) est un(e) (attribut) Congenital anomaly of musculoskeletal system false Inferred relationship Some

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

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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