OMOP Concept 37164404
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
StandardConditionSNOMED1230295000Disorder
Maps from
1
Descendants
0
Valid from
30 Jun 2022
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C563745 | B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations | Non-standard |
Synonyms
Alternative names recorded for B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome across source vocabularies.
- Agammaglobulinaemia due to TOP2B mutation
- Agammaglobulinemia due to TOP2B mutation
- B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
- BILU (B-cell immunodeficiency, limb, urogenital) syndrome
- BILU syndrome
- Hoffman syndrome due to TOP2B deficiency
- síndrome BILU (inmunodeficiencia de células B, anomalías de extremidades y malformaciones genitales)
- síndrome de inmunodeficiencia de células B, anomalías de extremidades y malformaciones genitourinarias
- síndrome de inmunodeficiencia de células B, anomalías de extremidades y malformaciones genitourinarias (trastorno)
- síndrome de inmunodeficiencia de células B, anomalías de extremidades y malformaciones urogenitales
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(57)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Congenital agammaglobulinemia
- 1Congenital anomaly of foot
- 1Congenital anomaly of hand
- 1Developmental hereditary disorder
- 1Genitourinary congenital anomalies
- 1Hereditary disorder of immune system
- 1Multiple malformation syndrome with facial-limb defects as major feature
- 2Autosomal hereditary disorder
- 2Congenital anomaly of limb
- 2Congenital anomaly of lower limb
- 2Congenital anomaly of lower trunk
- 2Congenital anomaly of upper limb
- 2Congenital immunodeficiency disease
- 2Developmental disorder
- 2Disorder of foot
- 2Disorder of hand
- 2Disorder of immune function
- 2Disorder of the genitourinary system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Multiple malformation syndrome with facial defects as major feature
- 2Multiple malformation syndrome with limb defect as major feature
- 3Congenital abnormality of lower limb and pelvic girdle
- 3Congenital anomaly of face
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