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

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
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
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
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
3426571001000115 Schmerzhafte orbitale und systemische Neurofibrome - marfanoider Habitus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
985981000172116 syndrome marfanoïde-neurofibromes systémiques et orbitaux douloureux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
985981000172116 syndrome marfanoïde-neurofibromes systémiques et orbitaux douloureux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426571001000115 Schmerzhafte orbitale und systemische Neurofibrome - marfanoider Habitus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Painful orbital and systemic neurofibroma, marfanoid habitus syndrome (disorder) Associated morphology Plexiform neurofibroma true Inferred relationship Existential restriction modifier (core metadata concept) 1
Painful orbital and systemic neurofibroma, marfanoid habitus syndrome (disorder) Is a Marfanoid physique (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Painful orbital and systemic neurofibroma, marfanoid habitus syndrome (disorder) Is a Plexiform neurofibroma (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Painful orbital and systemic neurofibroma, marfanoid habitus syndrome (disorder) Interprets Physique type (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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