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715344006: Neurofibromatosis Noonan syndrome (disorder)

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
5400835011 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400836012 Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterised 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5400835011 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400836012 Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterised 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). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3445731001000117 Neurofibromatose-Noonan-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445731001000117 Neurofibromatose-Noonan-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neurofibromatosis Noonan syndrome Is a Neurofibromatosis type 1 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis Noonan syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Neurofibromatosis Noonan syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Neurofibromatosis Noonan syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Neurofibromatosis Noonan syndrome Associated morphology Neurofibromatosis false Inferred relationship Existential restriction modifier (core metadata concept) 3
Neurofibromatosis Noonan syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Neurofibromatosis Noonan syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Neurofibromatosis Noonan syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Neurofibromatosis Noonan syndrome Associated morphology Neurofibromatosis false Inferred relationship Existential restriction modifier (core metadata concept) 5
Neurofibromatosis Noonan syndrome Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Neurofibromatosis Noonan syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neurofibromatosis Noonan syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Neurofibromatosis Noonan syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Neurofibromatosis Noonan syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neurofibromatosis Noonan syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Neurofibromatosis Noonan syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Neurofibromatosis Noonan syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Neurofibromatosis Noonan syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neurofibromatosis Noonan syndrome Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neurofibromatosis Noonan syndrome Associated morphology Neurofibromatosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neurofibromatosis Noonan syndrome 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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