netherton syndrome

Preferred Label : netherton syndrome;

MeSH definition : Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.;

MeSH synonym : netherton disease;

CISMeF synonym : netherton's syndrome; syndrome, netherton; disease, netherton;

Wikipedia automatic translation : Netherton;

Wikipedia link : https://en.wikipedia.org/wiki/Netherton;

Details

Origin ID

D056770;

UMLS CUI

C5574950;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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 [NCIt concept]
- 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]
DO Cross reference
- Netherton syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Eyebrow/eyelashes structural anomaly [ORDO Disease]
- Ichthyosis associated with a protein catabolism anomaly [ORDO Disease]
- Ichthyosis associated with ocular features [ORDO Disease]
- Inherited ichthyosis [ORDO Disease]
Record concept(s)
- netherton syndrome [MeSH concept]
See also
- Serine Peptidase Inhibitor Kazal-Type 5 [MeSH Descriptor]
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 [NCIt concept]
- 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]

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