Pseudohermaphroditism, female, with skeletal anomalies

Preferred Label : Pseudohermaphroditism, female, with skeletal anomalies;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %264270;

Details

Origin ID

264270;

UMLS CUI

C1849696;

Currated CISMeF NLP mapping
- 46,XX disorder of sex development with skeletal anomalies syndrome (disorder) [SNOMED CT concept]
- 46,XX disorder of sex development-skeletal anomalies syndrome [ORDO Disease]
- pseudohermaphroditism, female, with skeletal anomalies [MeSH concept]
- pseudohermaphroditism, female, with skeletal anomalies [MeSH Supplementary Concept]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clitoral hypertrophy [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Primary amenorrhea [HPO term]
- Short mandibular condyles [HPO term]
- Ulnar radial head dislocation [HPO term]
ORDO concept(s)
- 46,XX disorder of sex development-skeletal anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XX disorder of sex development-skeletal anomalies syndrome [ORDO Disease]
- pseudohermaphroditism, female, with skeletal anomalies [MeSH Supplementary Concept]
- pseudohermaphroditism, female, with skeletal anomalies [MeSH concept]

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