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1304119009: Mosaic neurofibromatosis type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5309369012 Mosaic neurofibromatosis type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309370013 Mosaic neurofibromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309371012 MNF2 - mosaic neurofibromatosis type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309372017 Mosaic NF2-related schwannomatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5309373010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309374016 A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors, 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309369012 Mosaic neurofibromatosis type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309370013 Mosaic neurofibromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309371012 MNF2 - mosaic neurofibromatosis type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309372017 Mosaic NF2-related schwannomatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5309373010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309374016 A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors, 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mosaic neurofibromatosis type 2 Is a Neurofibromatosis type 2 true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic neurofibromatosis type 2 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic neurofibromatosis type 2 Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic neurofibromatosis type 2 Associated morphology Neurofibromatosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic neurofibromatosis type 2 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mosaic neurofibromatosis type 2 Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mosaic neurofibromatosis type 2 Associated morphology Neurofibromatosis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Mosaic neurofibromatosis type 2 Finding site Vestibulocochlear nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic neurofibromatosis type 2 Associated morphology Schwannoma true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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