Netherton syndrome

Preferred Label : Netherton syndrome;

ICD-11 definition : Netherton syndrome is a skin disorder characterized by congenital ichthyosiform erythroderma, a distinctive hair shaft defect (trichorrhexis invaginata) and atopic manifestations.;

ICD-11 synonym : Netherton disease; Comèl-Netherton syndrome;

Details

Origin ID

1797493665;

UMLS CUI

C0265962;

Currated CISMeF NLP mapping
- Comel-Netherton syndrome [PASCAL descriptor]
- Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder) [SNOMED CT concept]
- Netherton Syndrome [NCIt concept]
- Netherton Syndrome [Disease (Nov.)]
- Netherton syndrome [ORDO Disease]
- Netherton syndrome [OMIM Phenotype]
- Netherton syndrome [DO Concept]
- Netherton's syndrome [MedDRA Preferred Term]
- Netherton's syndrome (disorder) [SNOMED CT concept]
- lamellar ichthyosis and trichorrhexis invaginata syndrome [SNOMED Notion]
- netherton syndrome [MeSH concept]
- netherton syndrome [MeSH Descriptor]
See also inter- (CISMeF)
- Ichthyosis linearis circumflexa (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Comel-Netherton syndrome [PASCAL descriptor]
- Ichthyosis linearis circumflexa (disorder) [SNOMED CT concept]
- Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder) [SNOMED CT concept]
- Netherton Syndrome [NCIt concept]
- Netherton Syndrome [Disease (Nov.)]
- Netherton syndrome [DO Concept]
- Netherton syndrome [OMIM Phenotype]
- Netherton syndrome [ORDO Disease]
- Netherton's syndrome [MedDRA Preferred Term]
- Netherton's syndrome (disorder) [SNOMED CT concept]
- ichthyosis linearis circumflexa [SNOMED Notion]
- lamellar ichthyosis and trichorrhexis invaginata syndrome [SNOMED Notion]
- netherton syndrome [MeSH Descriptor]
- netherton syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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