OMOP Concept 36714925
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome
StandardConditionSNOMED720345008Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C536781 | T-cell immunodeficiency, congenital alopecia and nail dystrophy | Non-standard |
| Nebraska Lexicon | 720345008 | Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency | Non-standard |
Synonyms
Alternative names recorded for Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome across source vocabularies.
- Alymphoid cystic thymic dysgenesis
- Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency
- deficiencia de FOXN1
- deficiencia de la hélice alada
- disgenesia quística alinfoide del timo
- Pignata Guarino syndrome
- Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)
- síndrome de inmunodeficiencia severa de linfocitos T, alopecia congénita y distrofia ungueal
- síndrome de inmunodeficiencia severa de linfocitos T, alopecia congénita y distrofia ungueal (trastorno)
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- Winged helix deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(49)Roll up to these when you need a wider cohort.
- 1Autosomal recessive SCID (severe combined immunodeficiency disease)
- 1Congenital alopecia
- 1Congenital anomaly of nail
- 1Developmental hereditary disorder
- 1Genetic disorder of nail
- 1Hereditary disorder of the integument
- 2Alopecia
- 2Autosomal recessive hereditary disorder
- 2Congenital anomaly of digit
- 2Congenital anomaly of hair
- 2Congenital anomaly of skin
- 2Developmental abnormality of nail
- 2Developmental disorder
- 2Disorder of integument
- 2Disorder of nail
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Severe combined immunodeficiency disease
- 3Autosomal hereditary disorder
- 3Combined immunodeficiency disease
- 3Congenital anomaly of integument
- 3Congenital anomaly of limb
- 3Congenital immunodeficiency disease
- 3Disease
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