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1304118001: Mosaic neurofibromatosis type 1 (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
5309364019 MNF1 - mosaic neurofibromatosis type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309365018 Mosaic neurofibromatosis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309366017 Mosaic neurofibromatosis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309367014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309368016 A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple cafe-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309364019 MNF1 - mosaic neurofibromatosis type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309365018 Mosaic neurofibromatosis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309366017 Mosaic neurofibromatosis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309367014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5309368016 A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple cafe-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors 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. 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 1 Is a Neurofibromatosis type 1 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mosaic neurofibromatosis type 1 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic neurofibromatosis type 1 Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic neurofibromatosis type 1 Associated morphology Neurofibromatosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic neurofibromatosis type 1 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic neurofibromatosis type 1 Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic neurofibromatosis type 1 Associated morphology Neurofibromatosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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