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81669005: Neurofibromatosis (morphologic abnormality)

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
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

0 descendants.

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
Familial multiple café-au-lait macules without neurofibromatosis 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 (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). Associated morphology False Neurofibromatosis Inferred relationship Some 3
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). 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
Familial multiple café-au-lait macules without neurofibromatosis Associated morphology False Neurofibromatosis Inferred relationship Some 1
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). Associated morphology True Neurofibromatosis Inferred relationship Some 1
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). Associated morphology True Neurofibromatosis Inferred relationship Some 2
schwannomatose Associated morphology False Neurofibromatosis Inferred relationship Some 3
schwannomatose Associated morphology False 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 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. Associated morphology True Neurofibromatosis Inferred relationship Some 3
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. 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
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. Associated morphology True Neurofibromatosis Inferred relationship Some 1
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. Associated morphology True Neurofibromatosis Inferred relationship Some 2
A rare mosaic form of NF2-related schwannomatosis characterised by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumours, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis. Associated morphology True Neurofibromatosis Inferred relationship Some 2
A rare mosaic form of NF2-related schwannomatosis characterised by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumours, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis. Associated morphology True Neurofibromatosis Inferred relationship Some 3
A rare form of neurofibromatosis characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves, and often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves, and the cranium. Associated morphology True Neurofibromatosis Inferred relationship Some 1
A rare form of neurofibromatosis characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves, and often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves, and the cranium. Associated morphology True Neurofibromatosis Inferred relationship Some 2

This concept is not in any reference sets

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