773642001: Painful orbital and systemic neurofibroma, marfanoid habitus syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of observation of patient\Finding of general observation of appearance\Physique finding\Marfanoid physique\Painful orbital and systemic neurofibroma, marfanoid habitus syndrome
• \Disease\Neoplasm and/or hamartoma\Neoplastic disease\...
• \Neoplasm of nerve sheath origin\Benign neoplasm of nerve sheath origin\Neurofibroma\Plexiform neurofibroma\Painful orbital and systemic neurofibroma, marfanoid habitus syndrome
• \Benign neoplastic disease\Benign neoplasm of nerve sheath origin\Neurofibroma\Plexiform neurofibroma\Painful orbital and systemic neurofibroma, marfanoid habitus syndrome

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
3725343011	Painful orbital and systemic neurofibroma, marfanoid habitus syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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