neutropenia, severe congenital, autosomal recessive 3

Preferred Label : neutropenia, severe congenital, autosomal recessive 3;

MeSH note : Scn3 not included;

CISMeF synonym : autosomal dominant or sporadic congenital neutropenia;

MeSH synonym : kostmann disease; kostmann syndrome; agranulocytosis, infantile genetic; infantile genetic agranulocytosis; agranulocytosis, infantile; kostmann's agranulocytosis; kostmann's syndrome; severe infantile genetic neutropenia;

Related MeSH term : Congenital Neutropenia; Congenital Agranulocytosis; Severe congenital neutropenia;

Details

Origin ID

C537592;

UMLS CUI

C5235141;

Automatic exact mappings (from CISMeF team)
- Agranulocytosis [ICD-10 category (who)]
- Congenital agranulocytosis [HPO term]
- Neutropenia, severe congenital [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Congenital neutropenia [PASCAL descriptor]
- Congenital neutropenia [MedDRA LLT]
- Congenital neutropenia (disorder) [SNOMED CT concept]
- Infantile genetic agranulocytosis [ICD-11 More detail]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Kostmann syndrome [ICD-11 More detail]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome [PASCAL descriptor]
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Kostmann's syndrome [MedDRA LLT]
- Neutropenia, severe congenital, 3, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia [NCIt concept]
- Severe Congenital Neutropenia Type 3, Autosomal Recessive [NCIt concept]
- Severe congenital neutropenia [ORDO Disease]
- congenital neutropenia [SNOMED Notion]
- obsolete Congenital neutropenia [HPO term]
- severe congenital neutropenia [DO Concept]
HPO term
- Congenital agranulocytosis [HPO term]
MeSH term(s) associated for indexing
- Congenital Bone Marrow Failure Syndromes [MeSH Descriptor]
- neutropenia [MeSH Descriptor]
ORDO relation(s)
- Severe congenital neutropenia [ORDO Disease]
Record concept(s)
- autosomal dominant or sporadic congenital neutropenia [MeSH concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH concept]
See also inter- (CISMeF)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Severe congenital neutropaenia [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant severe congenital neutropenia [ORDO Disease]
- Congenital Neutropenia [NCIt concept]
- Congenital agranulocytosis [HPO term]
- Infantile genetic agranulocytosis [MedDRA Preferred Term]
- Infantile genetic agranulocytosis [ICD-11 More detail]
- Kostmann syndrome [ICD-11 More detail]
- Kostmann syndrome [ORDO Disease]
- Kostmann syndrome [PASCAL descriptor]
- Kostmann syndrome (disorder) [SNOMED CT concept]
- Kostmann's syndrome [MedDRA LLT]
- Neutropenia, severe congenital, 3, autosomal recessive [OMIM Phenotype]
- Severe Congenital Neutropenia [NCIt concept]
- Severe Congenital Neutropenia Type 3, Autosomal Recessive [NCIt concept]
- Severe congenital neutropenia [ORDO Disease]
Validated automatic mappings to NTBT
- Congenital Neutropenia [NCIt concept]
- Constitutional neutropaenia [ICD-11 Sub-sub category]
- congenital neutropenia [Disease (Nov.)]

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