lamellar ichthyosis and trichorrhexis invaginata syndrome

Preferred Label : lamellar ichthyosis and trichorrhexis invaginata syndrome;

Origin ID

D4-40115;

UMLS CUI

C0265962;

ICD-10 exact mapping(s)
- Other congenital ichthyosis [ICD-10 Sub-category (who)]
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]
Metaterm(s)
- dermatology [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- dehydrated structure [SNOMED Notion]
- developmental anomaly, nos [SNOMED Notion]
- hyperkeratosis, nos [SNOMED Notion]
- skin, nos [SNOMED Notion]
- trichorrhexis nodosa [SNOMED Notion]
SNOMED CT concept
- Lamellar ichthyosis AND trichorrhexis invaginata syndrome (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 [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]
- netherton syndrome [MeSH concept]
- netherton syndrome [MeSH Descriptor]