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92824003: Neurofibromatosis type 1 (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
1235773018 Neurofibromatosis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009083017 Neurofibromatosis 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009124011 Neurofibromatosis, peripheral type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009605014 Von Recklinghausen disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3670042010 Neurofibromatosis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3671376015 NF1 - Neurofibromatosis type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3704124016 Multiple non-ossifying fibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1819701000195110 neurofibromatosi di tipo 1 it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
89871000172117 neurofibromatose de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
559251000172119 neurofibromatose de Von Recklinghausen type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454291001000114 Neurofibromatose Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neurofibromatosis type 1 Is a Neurofibromatosis syndrome true Inferred relationship Some
Neurofibromatosis type 1 Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Neurofibromatosis type 1 Occurrence Congenital false Inferred relationship Some
Neurofibromatosis type 1 Associated morphology Dysplasia false Inferred relationship Some 3
Neurofibromatosis type 1 Finding site Subcutaneous tissue structure false Inferred relationship Some 2
Neurofibromatosis type 1 Associated morphology Neurofibromatosis true Inferred relationship Some 1
Neurofibromatosis type 1 Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Neurofibromatosis type 1 Associated morphology Pigment deposition false Inferred relationship Some 2
Neurofibromatosis type 1 Finding site Structure of skin region false Inferred relationship Some 3
Neurofibromatosis type 1 Pathological process Neoplastic process false Inferred relationship Some
Neurofibromatosis type 1 Associated morphology Neurofibroma, no International Classification of Diseases for Oncology subtype false Inferred relationship Some 2
Neurofibromatosis type 1 Is a Disorder of subcutaneous tissue (disorder) false Inferred relationship Some
Neurofibromatosis type 1 Is a Cutaneous neurofibroma false Inferred relationship Some
Neurofibromatosis type 1 Is a Neoplasm of connective tissues false Inferred relationship Some
Neurofibromatosis type 1 Is a Connective tissue hereditary disorder false Inferred relationship Some
Neurofibromatosis type 1 Is a Congenital anomaly of subcutaneous tissue false Inferred relationship Some
Neurofibromatosis type 1 Associated morphology anomalie congénitale false Inferred relationship Some 2
Neurofibromatosis type 1 Is a Benign neoplasm of soft tissue (disorder) false Inferred relationship Some
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 1
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 1
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 2
Neurofibromatosis type 1 Associated morphology Hamartoma false Inferred relationship Some
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 2
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 2
Neurofibromatosis type 1 Associated morphology anomalie congénitale false Inferred relationship Some 3
Neurofibromatosis type 1 Associated morphology anomalie congénitale false Inferred relationship Some 1
Neurofibromatosis type 1 Associated morphology anomalie congénitale false Inferred relationship Some 3
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 1
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 2
Neurofibromatosis type 1 Is a Neoplasm of uncertain behavior of skin false Inferred relationship Some
Neurofibromatosis type 1 Is a Skin tumour of neural origin false Inferred relationship Some
Neurofibromatosis type 1 Is a Neoplasm of nerve sheath origin (disorder) false Inferred relationship Some
Neurofibromatosis type 1 Associated morphology anomalie congénitale false Inferred relationship Some 2
Neurofibromatosis type 1 Associated morphology anomalie congénitale false Inferred relationship Some 2
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 1
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 3
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 1
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 2
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 1
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 2
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 1
Neurofibromatosis type 1 Finding site Skin structure true Inferred relationship Some 2
Neurofibromatosis type 1 Occurrence Congenital false Inferred relationship Some 3
Neurofibromatosis type 1 Associated morphology anomalie du développement false Inferred relationship Some 3
Neurofibromatosis type 1 Occurrence Congenital false Inferred relationship Some 4
Neurofibromatosis type 1 Associated morphology anomalie du développement false Inferred relationship Some 4
Neurofibromatosis type 1 Finding site Structure of nervous system (body structure) false Inferred relationship Some 4
Neurofibromatosis type 1 Finding site Structure of nervous system (body structure) false Inferred relationship Some 3
Neurofibromatosis type 1 Finding site Skin structure false Inferred relationship Some 3
Neurofibromatosis type 1 Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
Neurofibromatosis type 1 Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Neurofibromatosis type 1 Occurrence Congenital true Inferred relationship Some 2
Neurofibromatosis type 1 Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Neurofibromatosis type 1 Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Neurofibromatosis type 1 Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
Neurofibromatosis type 1 Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Neurofibromatosis type 1 Occurrence Congenital true Inferred relationship Some 1
Neurofibromatosis type 1 Associated morphology Neurofibromatosis true Inferred relationship Some 2
Neurofibromatosis type 1 Is a Hereditary disorder of the integument true Inferred relationship Some
Neurofibromatosis type 1 Is a Hereditary disorder of nervous system true Inferred relationship Some
Neurofibromatosis type 1 Is a Developmental hereditary disorder false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Axillary freckling due to neurofibromatosis (disorder) Is a True Neurofibromatosis type 1 Inferred relationship Some
Multiple café-au-lait macules due to neurofibromatosis (disorder) Is a True Neurofibromatosis type 1 Inferred relationship Some
Multiple neurofibromas in neurofibromatosis (disorder) Is a True Neurofibromatosis type 1 Inferred relationship Some
Plexiform neurofibroma (disorder) Is a False Neurofibromatosis type 1 Inferred relationship Some
Elephantiasis neurofibromatosa (disorder) Is a True Neurofibromatosis type 1 Inferred relationship Some
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). Is a True Neurofibromatosis type 1 Inferred relationship Some
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. Is a True Neurofibromatosis type 1 Inferred relationship Some
Segmental neurofibromatosis type 1 (disorder) Is a True Neurofibromatosis type 1 Inferred relationship Some
Familial spinal neurofibromatosis Is a True Neurofibromatosis type 1 Inferred relationship Some
A rare mosaic form of neurofibromatosis type 1 (NF1) characterised by findings typical of NF1, namely multiple cafe-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumours of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicism and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1. Is a True Neurofibromatosis type 1 Inferred relationship Some

This concept is not in any reference sets

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