Neutropenia, severe congenital, X-linked

Preferred Label : Neutropenia, severe congenital, X-linked;

Symbol : SCNX;

CISMeF acronym : SCNX; XLN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XLN;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the WAS gene (WAS, 300392.0012);

Prefixed ID : #300299;

Détails

Origin ID

300299;

UMLS CUI

C1845987;

Currated CISMeF NLP mapping
- Neutropenia, Severe Congenital, X-Linked [NCIt concept]
- X-linked severe congenital neutropaenia [ICD-11 More detail]
- X-linked severe congenital neutropenia [DO Concept]
- X-linked severe congenital neutropenia [ORDO Disease]
- X-linked severe congenital neutropenia (disorder) [SNOMED CT concept]
- neutropenia, severe congenital, X-Linked [MeSH concept]
- neutropenia, severe congenital, X-Linked [MeSH Supplementary Concept]
Genes related to phenotype
- Wasp actin nucleation promoting factor [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Neutropenia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent major bacterial infections [HPO term]
- X-linked recessive inheritance [HPO term]
- obsolete Congenital neutropenia [HPO term]
Not associated HPO term(s)
- Eczema [HPO term]
ORDO concept(s)
- X-linked severe congenital neutropenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neutropenia, Severe Congenital, X-Linked [NCIt concept]
- X-linked severe congenital neutropaenia [ICD-11 More detail]
- X-linked severe congenital neutropenia [ORDO Disease]
- X-linked severe congenital neutropenia [DO Concept]
- X-linked severe congenital neutropenia (disorder) [SNOMED CT concept]
- neutropenia, severe congenital, X-Linked [MeSH Supplementary Concept]
- neutropenia, severe congenital, X-Linked [MeSH concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients