400946004: Congenital fibrosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Congenital fibrosis syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Congenital fibrosis syndrome
• \General finding of soft tissue\Disorder of soft tissue\...
• \Disorder of soft tissue of head\Disorder of extraocular muscle\...
• \Extraocular muscle restriction\Congenital fibrosis syndrome
• \External ophthalmoplegia\Congenital fibrosis syndrome
• \Soft tissue lesion\Lesion of skeletal muscle\Congenital fibrosis syndrome
• \Disorder of skeletal muscle\Lesion of skeletal muscle\Congenital fibrosis syndrome
• \Disorder of skeletal muscle\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Finding of head region\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Finding of head region\Disorder of eye region\Disorder of orbit proper\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Finding of head region\Disorder of eye region\Congenital strabismus\Congenital fibrosis syndrome
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Finding of head region\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Finding of head region\Orbit finding\Disorder of orbit proper\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disorder of head\Disorder of eye region\Disorder of orbit proper\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disorder of head\Disorder of eye region\Congenital strabismus\Congenital fibrosis syndrome
• \Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disorder of head\Congenital anomaly of head\Congenital strabismus\Congenital fibrosis syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Eye / vision finding\Orbit finding\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Eye / vision finding\Orbit finding\Disorder of orbit proper\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Congenital strabismus\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Congenital fibrosis syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Congenital fibrosis syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\...
• \Lesion of skeletal muscle\Congenital fibrosis syndrome
• \Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Disorder of skeletal muscle\Lesion of skeletal muscle\Congenital fibrosis syndrome
• \Disorder of skeletal muscle\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome
• \Neurological finding\Cranial nerve finding\Congenital fibrosis syndrome
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Genetic disease\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of orbit proper\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Congenital strabismus\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital strabismus\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Strabismus\Congenital strabismus\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Neurological disorder\Neurologic disorder of eye movements\Ophthalmoplegia\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Lesion of skeletal muscle\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Lesion of skeletal muscle\Congenital fibrosis syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of orbit proper\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of eye region\Congenital strabismus\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital strabismus\Congenital fibrosis syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Congenital fibrosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Congenital fibrosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome
• \Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skeletal muscle\Congenital fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Lesion of skeletal muscle\Congenital fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\Extraocular muscle restriction\Congenital fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia\Congenital fibrosis syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital strabismus\Congenital fibrosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis\Congenital fibrosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital strabismus\Congenital fibrosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of orbit\Congenital fibrosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital fibrosis syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
1780154019	Congenital fibrosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3010207014	Congenital fibrosis of extraocular muscles	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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