OMOP Concept 434895
Congenital neutropenia
StandardConditionSNOMED89655007Disorder
Maps from
7
Descendants
17
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
7 source codes normalize to Congenital neutropenia via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 110118 | Primary neutropenia | Non-standard |
| CIEL | 143810 | Congenital neutropenia | Non-standard |
| ICD10CM | D70.0 | Congenital agranulocytosis | Non-standard |
| ICD9CM | 288.01 | Congenital neutropenia | Non-standard |
| Nebraska Lexicon | 89655007 | Severe infantile genetic agranulocytosis | Non-standard |
| Read | D400500 | Congenital neutropenia | Non-standard |
| Read | D400511 | Congenital agranulocytosis NEC | Non-standard |
Synonyms
Alternative names recorded for Congenital neutropenia across source vocabularies.
- Congenital neutropenia (disorder)
- neutropenia congénita
- neutropenia congénita (trastorno)
- neutropenia genética infantil severa
- Primary neutropenia
- Severe congenital neutropenia
- Severe infantile genetic neutropenia
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(32)Roll up to these when you need a wider cohort.
- 1Congenital immunodeficiency disease
- 1Neutropenic disorder
- 1OMOP Neutropenia 1
- 2Congenital disease
- 2Immunodeficiency disorder
- 2Leukopenia
- 2Neutropenia
- 2Quantitative disorder of neutrophils
- 3Blood leukocyte number below reference range
- 3Disorder of fetus and/or newborn
- 3Disorder of immune function
- 3Granulocyte count below reference range
- 3Neutrophil count outside reference range
- 3Quantitative abnormality of granulocytes
- 3White blood cell disorder
- 4Cytopenia
- 4Disease
- 4Disorder of cellular component of blood
- 4Disorder of neutrophils
- 4Disorder of phagocytic cell number
- 4White blood cell count outside reference range
- 5Blood cell count outside reference range
- 5Clinical finding
- 5Finding of blood, lymphatics and immune system
- 5Measurement finding below reference range
Narrower concepts
(17)Included automatically when you query with descendants.
- 1Autosomal dominant severe congenital neutropenia
- 1Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- 1Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
- 1Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- 1Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- 1Congenital neutropenia, myelofibrosis, nephromegaly syndrome
- 1Kostmann syndrome
- 1Neutropenia, monocytopenia, deafness syndrome
- 1Onycho-tricho-dysplasia neutropenia syndrome
- 1Reticular dysgenesis
- 1Severe combined immunodeficiency with reticular dysgenesis
- 1Shwachman syndrome
- 1Warts, hypogammaglobulinemia, infections, and myelokathexis
- 1X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
- 1X-linked severe congenital neutropenia
- 2De Vaal's syndrome
- 2Reticular dysgenesis with congenital aleukocytosis
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