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21321009: Ambiguous genitalia (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
35809019 Ambiguous genitalia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
750603015 Ambiguous genitalia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4458451000241116 organes génitaux ambigus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ambiguous genitalia Is a Congenital anomaly of genital organ false Inferred relationship Some
Ambiguous genitalia Occurrence Congenital false Inferred relationship Some
Ambiguous genitalia Associated morphology anomalie du développement false Inferred relationship Some 2
Ambiguous genitalia Finding site Entire genital organ (body structure) false Inferred relationship Some 2
Ambiguous genitalia Finding site Structure of genitourinary system (body structure) false Inferred relationship Some 1
Ambiguous genitalia Associated morphology anomalie congénitale false Inferred relationship Some 1
Ambiguous genitalia Is a Congenital malformation of genital organs true Inferred relationship Some
Ambiguous genitalia Finding site Genital structure false Inferred relationship Some 2
Ambiguous genitalia Associated morphology Congenital malformation false Inferred relationship Some 2
Ambiguous genitalia Occurrence Congenital false Inferred relationship Some
Ambiguous genitalia Is a Perineal finding false Inferred relationship Some
Ambiguous genitalia Is a Congenital anomaly of perineum false Inferred relationship Some
Ambiguous genitalia Finding site External genitalia structure false Inferred relationship Some 1
Ambiguous genitalia Finding site Genital structure false Inferred relationship Some 2
Ambiguous genitalia Finding site External genitalia structure false Inferred relationship Some 1
Ambiguous genitalia Associated morphology anomalie congénitale false Inferred relationship Some 1
Ambiguous genitalia Associated morphology Congenital malformation false Inferred relationship Some 2
Ambiguous genitalia Occurrence Congenital false Inferred relationship Some 3
Ambiguous genitalia Associated morphology anomalie du développement false Inferred relationship Some 3
Ambiguous genitalia Finding site External genitalia structure false Inferred relationship Some 3
Ambiguous genitalia Occurrence Congenital true Inferred relationship Some 1
Ambiguous genitalia Finding site External genitalia structure true Inferred relationship Some 1
Ambiguous genitalia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ambiguous genitalia Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Ambiguous genitalia Is a Disorder of pelvic region of trunk (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of ambiguous genitalia Associated finding True Ambiguous genitalia Inferred relationship Some 1
Reduction clitoroplasty of ambiguous genitalia Has focus True Ambiguous genitalia Inferred relationship Some 1
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 Ambiguous genitalia Inferred relationship Some
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Is a True Ambiguous genitalia Inferred relationship Some

This concept is not in any reference sets

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