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81669005: Neurofibromatosis (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\...

\Growth alteration\Proliferation\Proliferative mass (morphologic abnormality)\Neoplasm and/or hamartoma (morphologic abnormality)\Neoplasm\...

\Nervous system tumour morphology\Nerve sheath tumor\Neurofibromatosis

\Neoplasm of uncertain behaviour\Neurofibromatosis

\Lesion (morphologic abnormality)\Mass\Proliferative mass (morphologic abnormality)\Neoplasm and/or hamartoma (morphologic abnormality)\Neoplasm\...

\Nervous system tumour morphology\Nerve sheath tumor\Neurofibromatosis

\Neoplasm of uncertain behaviour\Neurofibromatosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurofibromatosis	Is a	Neoplasm of uncertain behaviour	true	Inferred relationship	Some
Neurofibromatosis	Is a	Nerve sheath tumor	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Diffuse pulmonary neurofibromatosis	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	1
Neurofibromatosis type 2	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	1
Neurofibromatosis type 3	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	2
Neurofibromatosis syndrome	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Neurofibromatosis type 1	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Segmental neurofibromatosis	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Diffuse neurofibroma	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	2
Axillary freckling due to neurofibromatosis (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Multiple neurofibromas in neurofibromatosis (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Plexiform neurofibroma (disorder)	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	2
Elephantiasis neurofibromatosa (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Café-au-lait macules with pulmonary stenosis (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Café-au-lait macules with temporal dysrhythmia (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
familiaire multipele café-au-laitvlekken zonder neurofibromatose	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	2
Diffuse pulmonary neurofibromatosis	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Neurofibromatosis 1	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	3
Multiple neurofibromas in neurofibromatosis (disorder)	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	3
Elephantiasis neurofibromatosa (disorder)	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	3
Neurofibromatosis Noonan syndrome (disorder)	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	3
Neurofibromatosis Noonan syndrome (disorder)	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	5
Axillary freckling due to neurofibromatosis (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	3
Neurofibromatosis syndrome	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Segmental neurofibromatosis	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Multiple café-au-lait macules due to neurofibromatosis (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Multiple neurofibromas in neurofibromatosis (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Elephantiasis neurofibromatosa (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Café-au-lait macules with pulmonary stenosis (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Café-au-lait macules with temporal dysrhythmia (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
familiaire multipele café-au-laitvlekken zonder neurofibromatose	Associated morphology	False	Neurofibromatosis	Inferred relationship	Some	1
Neurofibromatosis Noonan syndrome (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Neurofibromatosis Noonan syndrome (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Schwannomatosis	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	3
Schwannomatosis	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Neurofibromatosis type 2	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Neurofibromatosis type 1	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
17q11 deletion syndrome (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	3
17q11 deletion syndrome (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	4
Familial spinal neurofibromatosis	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Familial spinal neurofibromatosis	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Segmental neurofibromatosis type 1 (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	1
Segmental neurofibromatosis type 1 (disorder)	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	2
Neurofibromatosis type 2	Associated morphology	True	Neurofibromatosis	Inferred relationship	Some	3

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
135465015	Neurofibromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
135467011	Multiple neurofibromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
135468018	Von Recklinghausen's disease (except of Bone)	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
135469014	Recklinghausen's disease (except of Bone)	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
822965017	Neurofibromatosis (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7818311000172114	ziekte van von Recklinghausen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7818321000172116	neurofibromatose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)