OMOP Concept 4317840
Pure gonadal dysgenesis 46,XX
StandardConditionSNOMED95198001Disorder
Maps from
3
Descendants
1
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
3 source codes normalize to Pure gonadal dysgenesis 46,XX via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 128072 | Pure gonadal dysgenesis 46,XX | Non-standard |
| MeSH | D023961 | Gonadal Dysgenesis, 46,XX | Non-standard |
| Nebraska Lexicon | 95198001 | Ovarian dysgenesis with normal chromosomes | Non-standard |
Synonyms
Alternative names recorded for Pure gonadal dysgenesis 46,XX across source vocabularies.
- disgenesia gonadal pura 46, XX
- disgenesia gonadal pura 46, XX (trastorno)
- disgenesia ovárica con cromosomas normales
- Ovarian dysgenesis with normal chromosomes
- Pure gonadal dysgenesis 46,XX (disorder)
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.
- 1Ovarian dysgenesis
- 1Pure gonadal dysgenesis
- 2Congenital anomaly of endocrine ovary
- 2Gonadal dysgenesis
- 2Primary ovarian failure
- 3Congenital anomaly of endocrine gonad
- 3Congenital anomaly of ovary
- 3Congenital malformation of genital organs
- 3Disorder of endocrine ovary
- 3Ovarian failure
- 3Primary hypogonadism
- 4Congenital anomaly of abdomen
- 4Congenital anomaly of endocrine gland
- 4Congenital anomaly of female genital system
- 4Congenital anomaly of the pelvis
- 4Decreased hormone secretion
- 4Disorder of endocrine gonad
- 4Disorder of ovary
- 4Disorder of reproductive system
- 4Female hypogonadism syndrome
- 4Genital finding
- 4Genitourinary congenital anomalies
- 4Hypogonadism
- 5Congenital anomaly of lower trunk
- 5Congenital female urogenital anomaly
Narrower concepts
(1)Included automatically when you query with descendants.
Get this concept via the API
Resolve Pure gonadal dysgenesis 46,XX - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/4317840?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card