Netherton Syndrome

Preferred Label : Netherton Syndrome;

NCIt definition : A rare autosomal recessive form of ichthyosis caused by mutations in the SPINK5 gene. Patients have spiky and fragile hair.;

Details

Origin ID

C84922;

UMLS CUI

C5574950;

Currated CISMeF NLP mapping
- Comel-Netherton syndrome [PASCAL descriptor]
- Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder) [SNOMED CT concept]
- Netherton Syndrome [Disease (Nov.)]
- Netherton syndrome [DO Concept]
- Netherton syndrome [ICD-11 More detail]
- Netherton syndrome [OMIM Phenotype]
- Netherton syndrome [ORDO Disease]
- Netherton's syndrome [MedDRA Preferred Term]
- Netherton's syndrome (disorder) [Inactive SNOMED CT concept]
- Netherton's syndrome (disorder) [SNOMED CT concept]
- lamellar ichthyosis and trichorrhexis invaginata syndrome [SNOMED Notion]
- netherton syndrome [MeSH Descriptor]
- netherton syndrome [MeSH concept]
DO Cross reference
- Netherton syndrome [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- 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 [Disease (Nov.)]
- Netherton syndrome [OMIM Phenotype]
- Netherton syndrome [ORDO Disease]
- Netherton syndrome [DO Concept]
- Netherton syndrome [ICD-11 More detail]
- 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 concept]
- netherton syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- SPINK5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients