773642001: syndrome marfanoïde-neurofibromes systémiques et orbitaux douloureux (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos de l'observation du patient\constatation à propos de l'observation générale de l'apparence\Physique finding\Marfanoid physique\Painful orbital and systemic neurofibroma, marfanoid habitus syndrome
• \Disease\néoplasme et/ou hamartome\maladie néoplasique\...
• \Neoplasm of nerve sheath origin (disorder)\Benign neoplasm of nerve sheath origin (disorder)\Neurofibroma (disorder)\Plexiform neurofibroma (disorder)\Painful orbital and systemic neurofibroma, marfanoid habitus syndrome
• \tumeur bénigne\Benign neoplasm of nerve sheath origin (disorder)\Neurofibroma (disorder)\Plexiform neurofibroma (disorder)\Painful orbital and systemic neurofibroma, marfanoid habitus syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3725342018	Painful orbital and systemic neurofibroma, marfanoid habitus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725343011	Painful orbital and systemic neurofibroma, marfanoid habitus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
771731000241110	syndrome marfanoïde-neurofibromes systémiques et orbitaux douloureux (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
985981000172116	syndrome marfanoïde-neurofibromes systémiques et orbitaux douloureux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3725340014	A rare benign peripheral nerve sheath tumour disorder characterised by multiple painful mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa. Also associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725341013	A rare benign peripheral nerve sheath tumor disorder characterized by multiple painful mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa. Also associated with a marfanoid habitus, enlarged corneal nerves, congenital neuronal migration anomalies and facial dysmorphism which includes ptosis, proptosis, prominent nose, full lips, gingival hyperplasia and multiple subcutaneous and submucosal nodules in the lips and sublingual zone.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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