19133005: Neurofibromatosis syndrome (disorder)

\Neurocutaneous syndrome\Neurofibromatosis syndrome

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 syndrome	Is a	Skin tumour of neural origin	true	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	Neoplasm of uncertain behavior of skin	true	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	Neurocutaneous syndrome	true	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	Congenital hamartosis	false	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	Neoplasm of nervous system	false	Inferred relationship	Some
Neurofibromatosis syndrome	Associated morphology	Neurofibromatosis	true	Inferred relationship	Some	1
Neurofibromatosis syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Neurofibromatosis syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Pathological process	Neoplastic process	false	Inferred relationship	Some
Neurofibromatosis syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Neurofibromatosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Neurofibromatosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Neurofibromatosis syndrome	Is a	Familial multiple tumor syndrome	false	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	Neoplasm of nerve sheath origin (disorder)	true	Inferred relationship	Some
Neurofibromatosis syndrome	Associated morphology	Hamartoma	false	Inferred relationship	Some
Neurofibromatosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Neurofibromatosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Neurofibromatosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurofibromatosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Associated morphology	Neoplasm	false	Inferred relationship	Some
Neurofibromatosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Neurofibromatosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Neurofibromatosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurofibromatosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Neurofibromatosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Neurofibromatosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Neurofibromatosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Neurofibromatosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Neurofibromatosis syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Neurofibromatosis syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Neurofibromatosis syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurofibromatosis syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Neurofibromatosis syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Neurofibromatosis syndrome	Is a	Hereditary cancer-predisposing syndrome	false	Inferred relationship	Some
Neurofibromatosis syndrome	Associated morphology	Neurofibromatosis	true	Inferred relationship	Some	2
Neurofibromatosis syndrome	Is a	Neoplasm of uncertain behavior of nervous system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neurofibromatosis type 3	Is a	False	Neurofibromatosis syndrome	Inferred relationship	Some
Neurofibromatosis type 2	Is a	True	Neurofibromatosis syndrome	Inferred relationship	Some
Neurofibromatosis type 1	Is a	True	Neurofibromatosis syndrome	Inferred relationship	Some
Segmental neurofibromatosis	Is a	True	Neurofibromatosis syndrome	Inferred relationship	Some
Diffuse neurofibroma	Is a	False	Neurofibromatosis syndrome	Inferred relationship	Some
Café-au-lait macules with pulmonary stenosis (disorder)	Is a	True	Neurofibromatosis syndrome	Inferred relationship	Some
Café-au-lait macules with temporal dysrhythmia (disorder)	Is a	True	Neurofibromatosis syndrome	Inferred relationship	Some
familiaire multipele café-au-laitvlekken zonder neurofibromatose	Is a	False	Neurofibromatosis syndrome	Inferred relationship	Some
Scoliosis in neurofibromatosis	Associated with	True	Neurofibromatosis syndrome	Inferred relationship	Some	2
Pulmonary hypertension in neurofibromatosis (disorder)	Is a	False	Neurofibromatosis syndrome	Inferred relationship	Some
Family history of neurofibromatosis (situation)	Associated finding	True	Neurofibromatosis syndrome	Inferred relationship	Some	1
Schwannomatosis	Is a	True	Neurofibromatosis syndrome	Inferred relationship	Some
Pulmonary hypertension in neurofibromatosis (disorder)	Due to	True	Neurofibromatosis syndrome	Inferred relationship	Some	2
Familial spinal neurofibromatosis	Is a	False	Neurofibromatosis syndrome	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records

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Id	Description	Lang	Type	Status	Case?	Module
32248018	Neurofibromatosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
32249014	Clinical neurofibromatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
746931014	Neurofibromatosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1222239011	NF - Neurofibromatosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3621000172119	syndrome de neurofibromatose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11414081000172118	neurofibromatose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
3631000172116	neurofibromatose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)