Netherton syndrome

Preferred Label : Netherton syndrome;

Symbol : NETH;

CISMeF acronym : NETH; NS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Comel-netherton syndrome; Netherton disease; NS; Erythroderma, ichthyosiform, with hypotrichosis and hyper-ige;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the serine protease inhibitor, Kazal type, 5 gene (SPINK5, 605010.0001);

Prefixed ID : #256500;

Détails

Origin ID

256500;

UMLS CUI

C5574950;

Automatic exact mappings (from CISMeF team)
- GNL3 wt Allele [NCIt concept]
- KRAS wt Allele [NCIt concept]
- Lower case Roman letter n (qualifier value) [SNOMED CT concept]
- N Ab [LOINC component]
- N Ag [LOINC component]
- N Category [NCIt concept]
- N NOS Ab [LOINC component]
- N NOS Ag [LOINC component]
- N+ (tumor staging) [SNOMED CT concept]
- Nano [NCIt concept]
- Nanosecond [NCIt concept]
- Nanosecond (qualifier value) [SNOMED CT concept]
- Nephrotic syndrome [ICD-11 Category]
- Newton [NCIt concept]
- Upper case Roman letter N (qualifier value) [SNOMED CT concept]
- non-specific [SNOMED Notion]
- serine peptidase inhibitor Kazal type 5 [ORDO Gene]
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 [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]
False automatic mappings
- Nuclear Cataract [NCIt concept]
Genes related to phenotype
- Serine protease inhibitor, kazal-type, 5 [OMIM gene]
HPO term(s)
- Abnormal intestine morphology [HPO term]
- Abnormality of the musculature [HPO term]
- Allergic rhinitis [HPO term]
- Angioedema [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Brittle scalp hair [HPO term]
- Congenital lamellar ichthyosis [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Decreased circulating IgG level [HPO term]
- Enteropathy [HPO term]
- Erythroderma [HPO term]
- Failure to thrive [HPO term]
- Food allergy [HPO term]
- Global developmental delay [HPO term]
- Hypereosinophilia [HPO term]
- Hypernatremic dehydration [HPO term]
- Ichthyosis [HPO term]
- Increased circulating IgE level [HPO term]
- Intestinal atresia [HPO term]
- Parakeratosis [HPO term]
- Recurrent infections [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse scalp hair [HPO term]
- Urticaria [HPO term]
- Villous atrophy [HPO term]
ORDO concept(s)
- Netherton syndrome [ORDO Disease]
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 [NCIt concept]
- Netherton Syndrome [Disease (Nov.)]
- 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 Descriptor]
- netherton syndrome [MeSH concept]

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