Poikiloderma with Neutropenia

Preferred Label : Poikiloderma with Neutropenia;

NCIt synonyms : PN;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the USB1 gene, encoding U6 snRNA phosphodiesterase. It is characterized by poikiloderma and chronic noncyclic neutropenia.;

Details

Origin ID

C177535;

UMLS CUI

C1858723;

Automatic exact mappings (from CISMeF team)
- Periostin [OMIM gene]
- Pneumonia [ICD-11 Category]
- U6 snRNA biogenesis phosphodiesterase 1 [HGNC gene]
- U6 snRNA biogenesis phosphodiesterase 1 [ORDO Gene]
- granulocytes [MeSH Descriptor]
- nasal polyps [MeSH Descriptor]
- paranigral nucleus [UBERON concept]
Currated CISMeF NLP mapping
- Poikiloderma with neutropaenia [ICD-11 More detail]
- Poikiloderma with neutropenia [OMIM Phenotype]
- Poikiloderma with neutropenia [ORDO Disease]
- Poikiloderma with neutropenia (disorder) [SNOMED CT concept]
- poikiloderma with neutropenia [MeSH Supplementary Concept]
- poikiloderma with neutropenia [MeSH concept]
- poikiloderma with neutropenia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Poikiloderma with neutropenia [OMIM Phenotype]
- Poikiloderma with neutropenia (disorder) [SNOMED CT concept]
- poikiloderma with neutropenia [MeSH Supplementary Concept]
- poikiloderma with neutropenia [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- USB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients