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19133005: Neurofibromatosis syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
32248018 Neurofibromatosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
32249014 Clinical neurofibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
746931014 Neurofibromatosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1222239011 NF - Neurofibromatosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

12 descendants. Search Descendants:

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 Occurrence Congenital false Inferred relationship Some
Neurofibromatosis syndrome Pathological process Neoplastic process false Inferred relationship Some
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 Neoplasm false Inferred relationship Some
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 Is a Hereditary cancer-predisposing syndrome false Inferred relationship Some
Neurofibromatosis syndrome Is a Neoplasm of uncertain behavior of nervous system true Inferred relationship Some
Neurofibromatosis syndrome Associated morphology Neurofibromatosis true Inferred relationship Some 1
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 1
Neurofibromatosis syndrome Associated morphology Congenital anomaly false Inferred relationship Some 1
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 Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Neurofibromatosis syndrome Occurrence Congenital true Inferred relationship Some 1
Neurofibromatosis syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Neurofibromatosis syndrome Associated morphology Dysplasia false Inferred relationship Some 2
Neurofibromatosis syndrome Finding site Structure of skin region false Inferred relationship Some 2
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 Finding site Skin structure false Inferred relationship Some 2
Neurofibromatosis syndrome Associated morphology Congenital anomaly false Inferred relationship Some 2
Neurofibromatosis syndrome Occurrence Congenital true Inferred relationship Some 2
Neurofibromatosis syndrome Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 2
Neurofibromatosis syndrome Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Neurofibromatosis syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Neurofibromatosis syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Neurofibromatosis syndrome Associated morphology Neurofibromatosis true Inferred relationship Some 2
Neurofibromatosis syndrome Finding site Skin structure false Inferred relationship Some 3
Neurofibromatosis syndrome Associated morphology Congenital anomaly false Inferred relationship Some 3
Neurofibromatosis syndrome Occurrence Congenital false Inferred relationship Some 3
Neurofibromatosis syndrome Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 3
Neurofibromatosis syndrome Finding site Skin structure false Inferred relationship Some 3

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
Familial multiple café-au-lait macules without neurofibromatosis (disorder) Is a True Neurofibromatosis syndrome Inferred relationship Some
Pulmonary hypertension in neurofibromatosis (disorder) Is a False Neurofibromatosis syndrome Inferred relationship Some
Schwannomatosis Is a True Neurofibromatosis syndrome Inferred relationship Some
Family history of neurofibromatosis (situation) Associated finding True Neurofibromatosis syndrome Inferred relationship Some 1
Scoliosis in neurofibromatosis Associated with True Neurofibromatosis syndrome Inferred relationship Some 2
Pulmonary hypertension in neurofibromatosis (disorder) Due to True Neurofibromatosis syndrome Inferred relationship Some 2

This concept is not in any reference sets

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