Monilethrix - CISMeF

Preferred Label : Monilethrix;

NCIt definition : A rare autosomal dominant inherited hair shaft disorder caused by mutations in certain cuticular type II keratin genes. It is characterized by the presence of thin, fragile hairs that appear beaded.;

Détails

Origin ID

C84894;

UMLS CUI

C0546966;

Automatic exact mappings (from CISMeF team)
- Congenital morphological disturbances of hair, not elsewhere classified [ICD-10 Sub-category (who)]
- Congenital morphological disturbances of hair, not elsewhere classified [ICD-10 Sub-category]
- Monilethrix [ICD-11 More detail]
- Monilethrix [HPO term]
- Pseudomonilethrix [OMIM Phenotype]
Currated CISMeF NLP mapping
- Beaded hair (disorder) [SNOMED CT concept]
- Monilethrix [PASCAL descriptor]
- Monilethrix [OMIM Phenotype]
- Monilethrix [ORDO Disease]
- monilethrix [DO Concept]
- monilethrix [Disease (Nov.)]
- monilethrix [MeSH Descriptor]
- monilethrix [MeSH concept]
- monilethrix [SNOMED Notion]
DO Cross reference
- monilethrix [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Beaded hair (disorder) [SNOMED CT concept]
- Monilethrix [ORDO Disease]
- Monilethrix [OMIM Phenotype]
- Monilethrix [PASCAL descriptor]
- Monilethrix [HPO term]
- monilethrix [DO Concept]
- monilethrix [Disease (Nov.)]
- monilethrix [MeSH concept]
- monilethrix [MeSH Descriptor]
- monilethrix [SNOMED Notion]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Hair [NCIt concept]
- Skin [NCIt concept]
disease_mapped_to_gene
- KRT81 Gene [NCIt concept]
- KRT83 Gene [NCIt concept]
- KRT86 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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