OMOP Concept 36717098
Absent thumb with short stature and immunodeficiency syndrome
StandardConditionSNOMED719685004Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Absent thumb with short stature and immunodeficiency syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 719685004 | Absent thumb with short stature and immunodeficiency syndrome | Non-standard |
Synonyms
Alternative names recorded for Absent thumb with short stature and immunodeficiency syndrome across source vocabularies.
- Absent thumb with short stature and immunodeficiency syndrome (disorder)
- síndrome de ausencia de pulgar con baja estatura e inmunodeficiencia
- síndrome de ausencia de pulgar con baja estatura e inmunodeficiencia (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(58)Roll up to these when you need a wider cohort.
- 1Aplasia of thumb
- 1Autosomal recessive hereditary disorder
- 1Combined immunodeficiency disease
- 1Congenital anomaly of musculoskeletal system
- 1Congenital immunodeficiency disease
- 1Congenital malformation syndromes associated with short stature
- 1Developmental hereditary disorder
- 1Disorder of skeletal system
- 1Hereditary disorder of immune system
- 1Hereditary disorder of musculoskeletal system
- 1Multiple malformation syndrome with limb defect as major feature
- 2Aplasia of limb
- 2Autosomal hereditary disorder
- 2Congenital absence of thumb
- 2Congenital disease
- 2Congenital malformation
- 2Congenital malformation syndrome
- 2Developmental disorder
- 2Disorder of immune function
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Immunodeficiency disorder
- 2Multiple system malformation syndrome
- 2Primary immune deficiency disorder
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