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715344006: neurofibromatose met syndroom van Noonan (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302300011 Neurofibromatosis Noonan syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302301010 Neurofibromatosis Noonan syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302302015 NFNS - Neurofibromatosis Noonan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302303013 Neurofibromatosis type 1 Noonan syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302304019 Neurofibromatosis with Noonan phenotype en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6460571000146112 neurofibromatose met syndroom van Noonan (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6460581000146114 neurofibromatose met syndroom van Noonan nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7741091000146111 neurofibromatose-Noonan-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7741101000146116 NF-NS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3302305018 A variant of neurofibromatosis type 1 characterized by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302306017 A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. 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
Neurofibromatosis Noonan syndrome (disorder) Is a Neurofibromatosis type 1 true Inferred relationship Some
Neurofibromatosis Noonan syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome (disorder) Associated morphology Neurofibromatosis false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Neurofibromatosis Noonan syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Neurofibromatosis Noonan syndrome (disorder) Finding site Skin structure false Inferred relationship Some 5
Neurofibromatosis Noonan syndrome (disorder) Associated morphology Neurofibromatosis false Inferred relationship Some 5
Neurofibromatosis Noonan syndrome (disorder) Finding site Structure of nervous system (body structure) false Inferred relationship Some 4
Neurofibromatosis Noonan syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Neurofibromatosis Noonan syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Neurofibromatosis Noonan syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Neurofibromatosis Noonan syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Neurofibromatosis Noonan syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Neurofibromatosis Noonan syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Neurofibromatosis Noonan syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Neurofibromatosis Noonan syndrome (disorder) Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Neurofibromatosis Noonan syndrome (disorder) Associated morphology Neurofibromatosis true Inferred relationship Some 1
Neurofibromatosis Noonan syndrome (disorder) Associated morphology Neurofibromatosis true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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