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75164001: Pseudohermaphroditism (disorder)

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
955081000195115 pseudoermafroditismo it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4635651000241114 pseudohermaphrodisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870431000195114 Pseudohermaphroditismus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

14 descendants. Search Descendants:

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 Indeterminate sex and pseudohermaphroditism false Inferred relationship Some
Pseudohermaphroditism Associated morphology anomalie du développement 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 anomalie congénitale 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 Congenital malformation false Inferred relationship Some 1
Pseudohermaphroditism Finding site Genital structure true Inferred relationship Some 1
Pseudohermaphroditism Associated morphology Congenital malformation false Inferred relationship Some 1
Pseudohermaphroditism Associated morphology anomalie congénitale 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 anomalie du développement 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

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