46,XX gonadal dysgenesis

ICD-11 code : LB45.1;

Preferred Label : 46,XX gonadal dysgenesis;

ICD-11 definition : Karyotype 46 XX; Gonads: gonadal dysgenesis (streak gonads); Phenotype female with symptoms like primary amenorrhea, hypergonadotrophic hypogonadism, normal statuture and no other abnormalities.;

ICD-11 synonym : FSH-RO - [follicular stimulating hormone-resistant ovaries]; 46,XX pure gonadal dysgenesis; Resistant ovary syndrome; 46,XX complete gonadal dysgenesis; Dysgenetic ovaries; Hypergonadotropic ovarian dysgenesis; follicular stimulating hormone-resistant ovaries;

ICD-11 acronym : FSH-RO;

Details

Origin ID

1742528605;

Automatic exact mappings (from CISMeF team)
- 46,XX testicular disorder of sex development (disorder) [SNOMED CT concept]
- FSHR wt Allele [NCIt concept]
- Gonadotropin-Resistant Ovary Syndrome [NCIt concept]
- Gonadotropin-Resistant ovary syndrome [MeSH concept]
- Resistant ovary syndrome (disorder) [SNOMED CT concept]
- follicle stimulating hormone receptor [ORDO Gene]
- primary ovarian insufficiency [MeSH Descriptor]
- resistant ovary syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- 46 XX gonadal dysgenesis [DO Concept]
- 46,XX Gonadal Dysgenesis [NCIt concept]
- 46,XX gonadal dysgenesis [ORDO Disease]
- Ovarian dysgenesis 1 [OMIM Phenotype]
- Pure gonadal dysgenesis 46,XX (disorder) [SNOMED CT concept]
- gonadal dysgenesis, 46,XX [MeSH concept]
- gonadal dysgenesis, 46,xx [MeSH Descriptor]
- pure gonadal dysgenesis 46,xx [SNOMED Notion]
- pure gonadal dysgenesis, 46, XX [MeSH concept]
ICD-10 Mapping
- Other chromosome abnormalities, not elsewhere classified [ICD-10 category]
Validated automatic mappings to NTBT
- Other chromosome abnormalities, not elsewhere classified [ICD-10 category]

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