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715344006: Neurofibromatosis Noonan syndrome (disorder)

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3302301010 Neurofibromatosis Noonan syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3302302015 NFNS - Neurofibromatosis Noonan syndrome en Synonym Active Case sensitive SNOMED CT core
3302303013 Neurofibromatosis type 1 Noonan syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3302304019 Neurofibromatosis with Noonan phenotype en Synonym Active Initial character case insensitive SNOMED CT core
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 Case sensitive 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 Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neurofibromatosis Noonan syndrome Occurrence Congenital true Inferred relationship Some 2
Neurofibromatosis Noonan syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
Neurofibromatosis Noonan syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
Neurofibromatosis Noonan syndrome Occurrence Congenital true Inferred relationship Some 1
Neurofibromatosis Noonan syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
Neurofibromatosis Noonan syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
Neurofibromatosis Noonan syndrome Pathological process Pathological developmental process false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome Finding site Skin structure true Inferred relationship Some 2
Neurofibromatosis Noonan syndrome Finding site Structure of nervous system true Inferred relationship Some 1
Neurofibromatosis Noonan syndrome Associated morphology Neurofibromatosis true Inferred relationship Some 1
Neurofibromatosis Noonan syndrome Associated morphology Neurofibromatosis true Inferred relationship Some 2
Neurofibromatosis Noonan syndrome Is a Neurofibromatosis type 1 true Inferred relationship Some
Neurofibromatosis Noonan syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome Occurrence Congenital false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome Finding site Skin structure false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome Associated morphology Neurofibromatosis false Inferred relationship Some 3
Neurofibromatosis Noonan syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Neurofibromatosis Noonan syndrome Occurrence Congenital false Inferred relationship Some 4
Neurofibromatosis Noonan syndrome Finding site Skin structure false Inferred relationship Some 5
Neurofibromatosis Noonan syndrome Associated morphology Neurofibromatosis false Inferred relationship Some 5
Neurofibromatosis Noonan syndrome Finding site Structure of nervous system false Inferred relationship Some 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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