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75164001: Pseudohermaphroditism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Pseudohermaphroditism
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs\Pseudohermaphroditism
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Pseudohermaphroditism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

124846017 Pseudohermaphroditism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

815743019 Pseudohermaphroditism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2009121000005112 pseudohermafroditisme da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pseudohermaphroditism	Is a	Congenital anomaly of genital organ	false	Inferred relationship	Some
Pseudohermaphroditism	Is a	ubestemmeligt køn og pseudohermafroditisme	false	Inferred relationship	Some
Pseudohermaphroditism	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Pseudohermaphroditism	Occurrence	Congenital	false	Inferred relationship	Some
Pseudohermaphroditism	Course	Multiple superficial injuries of lower leg	false	Inferred relationship	Some
Pseudohermaphroditism	Finding site	Entire genital organ (body structure)	false	Inferred relationship	Some	1
Pseudohermaphroditism	Finding site	Genital structure	false	Inferred relationship	Some	4
Pseudohermaphroditism	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Pseudohermaphroditism	Occurrence	Congenital	false	Inferred relationship	Some
Pseudohermaphroditism	Finding site	Genital structure	false	Inferred relationship	Some	1
Pseudohermaphroditism	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
Pseudohermaphroditism	Finding site	Genital structure	true	Inferred relationship	Some	1
Pseudohermaphroditism	Associated morphology	Kongenit malformation	false	Inferred relationship	Some	1
Pseudohermaphroditism	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Pseudohermaphroditism	Finding site	Genital structure	false	Inferred relationship	Some	2
Pseudohermaphroditism	Finding site	Genital structure	false	Inferred relationship	Some	3
Pseudohermaphroditism	Occurrence	Congenital	false	Inferred relationship	Some	3
Pseudohermaphroditism	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Pseudohermaphroditism	Occurrence	Congenital	true	Inferred relationship	Some	1
Pseudohermaphroditism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pseudohermaphroditism	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Pseudohermaphroditism	Is a	Congenital malformation of genital organs	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Male pseudohermaphroditism	Is a	True	Pseudohermaphroditism	Inferred relationship	Some
Female pseudohermaphroditism	Is a	True	Pseudohermaphroditism	Inferred relationship	Some
A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.	Is a	True	Pseudohermaphroditism	Inferred relationship	Some
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.	Is a	True	Pseudohermaphroditism	Inferred relationship	Some
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972.	Is a	True	Pseudohermaphroditism	Inferred relationship	Some
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.	Is a	True	Pseudohermaphroditism	Inferred relationship	Some
Pseudohermaphroditism due to congenital adrenal hyperplasia (disorder)	Is a	True	Pseudohermaphroditism	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
124846017	Pseudohermaphroditism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
815743019	Pseudohermaphroditism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2009121000005112	pseudohermafroditisme	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)