46,xy sex reversal 4

Preferred Label : 46,xy sex reversal 4;

Symbol : SRXY4;

CISMeF acronym : SRXY4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 9p24.3 deletion syndrome; 46,xy gonadal dysgenesis, partial or complete, with 9p24.3 deletion;

Prefixed ID : #154230;

Details

Origin ID

154230;

UMLS CUI

C2752149;

Currated CISMeF NLP mapping
- 46,XY Sex Reversal 4 [NCIt concept]
- 46,XY sex reversal 4 [DO Concept]
- 46,XY sex reversal 4 [MeSH concept]
- 46,XY sex reversal 4 [MeSH Supplementary Concept]
- 9p24.3 deletion [ICD-11 More detail]
DO Cross reference
- 46,XY sex reversal 4 [DO Concept]
HPO term(s)
- Agonadism [HPO term]
- Anal atresia [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Depressed nasal ridge [HPO term]
- Distal symphalangism [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Global developmental delay [HPO term]
- Gonadal dysgenesis [HPO term]
- High palate [HPO term]
- Hydronephrosis [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypoplasia of the uterus [HPO term]
- Hypoplastic labia majora [HPO term]
- Increased blood urea nitrogen [HPO term]
- Long philtrum [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Prominent nose [HPO term]
- Recurrent otitis media [HPO term]
- Renal dysplasia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sex reversal [HPO term]
- Trigonocephaly [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ureteropelvic junction obstruction [HPO term]
ORDO concept(s)
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY partial gonadal dysgenesis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY Sex Reversal 4 [NCIt concept]
- 46,XY sex reversal 4 [MeSH Supplementary Concept]
- 46,XY sex reversal 4 [MeSH concept]
- 9p24.3 deletion [ICD-11 More detail]
Validated automatic mappings to NTBT
- 46,XY complete gonadal dysgenesis [ORDO Disease]
- 46,XY sex reversal [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients