PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Ambiguous Genitalia

Synonyms
Definitions

A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.

ID

http://www.phoc.org.cn/pmo/class/PMO_00007580

Database_Cross_Reference

NCI:C98810

HPO:HP:0000062

MDR:10018183

OMIM:MTHU035498

MSH:D012734

MDR:10001904

CHV:0000026029

CST:ANOMALY CONGEN

RCD:Xa22s

SNOMEDCT_US:21321009

OMIM:MTHU037208

ICD10CM:Q56.4

SNM:M-23150

OMIM:MTHU039273

NCI_NICHD:C98810

SNMI:D4-80003

Definition

A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.

label

Ambiguous Genitalia

MCID

MC00091016

PMOID

PMO:00007580

prefixIRI

pmo:PMO_00007580

prefLabel

Ambiguous Genitalia

Synonym

Genital Ambiguities

Intersex genitalia

GENITALIA EXTERNAL AMBIGUOUS

Ambiguities, Genital

Genitalia, Ambiguous

Ambiguous external genitalia

Ambiguous genitalia

Ambiguous genitalia (disorder)

Ambiguous external genitalia at birth

Genital ambiguity

genitalia ambiguous

Ambiguity, Genital

Tree Number

T3.3.2.2.1.2

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00007486

Delete Subject Author Type Created
No notes to display