77142006: External genitalia structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Body system structure\Structure of subdivision of organ system (body structure)\Structure of genitourinary system subdivision\Structure of anatomical reproductive system (body structure)\Genital structure\External genitalia structure
\Body system structure\Structure of genitourinary system (body structure)\Structure of genitourinary system subdivision\Structure of anatomical reproductive system (body structure)\Genital structure\External genitalia structure

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
External genitalia structure	Is a	Genital structure	true	Inferred relationship	Some
External genitalia structure	Is a	Structure of urogenital region of perineum	false	Inferred relationship	Some
External genitalia structure	Is a	Entire subdivision of genitourinary system	false	Inferred relationship	Some
External genitalia structure	del af	Entire genital system	false	Additional relationship	Some
External genitalia structure	del af	Entire urogenital region of perineum	false	Additional relationship	Some
External genitalia structure	Is a	Structure of genitourinary system subdivision	false	Inferred relationship	Some
External genitalia structure	Is a	genitalregion	false	Inferred relationship	Some
External genitalia structure	Is a	This segment relates to the volume of the trunk that is bounded superiorly by and includes: superiorly the boundary of the false pelvis, which is an artificial plane from the symphysis pubis to the superior iliac crests (in front it is incomplete, presenting a wide interval between the anterior borders of the ilia); and inferiorly the perineum and external genitalia. The volume includes the entire transverse thickness of the body over the longitudinal extent between these upper (superior) and lower (inferior) boundaries including the overlying muscles, skin and subcutaneous tissue. The segment includes the volume of the true and false pelvic cavities including the bony pelvis and pelvic wall and the entire perineum and external genitalia. Note, the entire bony pelvis is included within the pelvic segment (but is excluded from the abdomen proper segment of trunk); however the pelvic segment of trunk and the abdomen proper segment of trunk both include the volume of the false pelvis.	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
dyb fuldhudsforbrænding af kønsorganerne med tab af underliggende strukturer	Finding site	False	External genitalia structure	Inferred relationship	Some	1
overfladisk fremmedlegeme i vagina uden større åbent sår OG uden infektion	Finding site	False	External genitalia structure	Inferred relationship	Some	2
dyb fuldhudsforbrænding af kønsorganerne med tab af underliggende strukturer	Finding site	False	External genitalia structure	Inferred relationship	Some	1
Traumatic injury of external genitalia (disorder)	Finding site	False	External genitalia structure	Inferred relationship	Some	1
Traumatic injury of external genitalia (disorder)	Finding site	True	External genitalia structure	Inferred relationship	Some	1
overfladisk fremmedlegeme i vulva uden større åbent sår OG uden infektion	Finding site	False	External genitalia structure	Inferred relationship	Some	3
Overfladisk traumatisk læsion af vulva uden infektion	Finding site	False	External genitalia structure	Inferred relationship	Some	3
Traumatic blister of vulva, infected	Finding site	False	External genitalia structure	Inferred relationship	Some	4
Nonvenomous insect bite of vulva with infection	Finding site	False	External genitalia structure	Inferred relationship	Some	2
Crush injury of labia	Finding site	False	External genitalia structure	Inferred relationship	Some	3
Traumatic blister of vulva	Finding site	False	External genitalia structure	Inferred relationship	Some	4
traumatisk knusningslæsion af vulva	Finding site	False	External genitalia structure	Inferred relationship	Some	3
Ambiguous genitalia	Finding site	False	External genitalia structure	Inferred relationship	Some	3
Ambiguous genitalia	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Duplication of external genitalia	Finding site	False	External genitalia structure	Inferred relationship	Some	3
Duplication of external genitalia	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Traumatic amputation of external genital organs	Finding site	False	External genitalia structure	Inferred relationship	Some	2
Injury to external genitalia due to birth trauma (disorder)	Finding site	False	External genitalia structure	Inferred relationship	Some	2
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.	Finding site	False	External genitalia structure	Inferred relationship	Some	3
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.	Finding site	False	External genitalia structure	Inferred relationship	Some	7
Complex burn of genitalia (disorder)	Finding site	True	External genitalia structure	Inferred relationship	Some	1
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.	Finding site	True	External genitalia structure	Inferred relationship	Some	2
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.	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Female pseudohermaphroditism	Finding site	True	External genitalia structure	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	True	External genitalia structure	Inferred relationship	Some	2
Reifensteins syndrom	Finding site	False	External genitalia structure	Inferred relationship	Some	2
Male pseudohermaphroditism	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Vulval structure (body structure)	Is a	True	External genitalia structure	Inferred relationship	Some
Pseudovaginal perineoscrotal hypospadias	Finding site	True	External genitalia structure	Inferred relationship	Some	2
A disorder of sex development (DSD) distinct from complete androgen insensitivity syndrome (CAIS) characterised by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. The condition is due to missense mutations in the androgen receptor (AR) gene (Xq11-12) coding for the AR nuclear transcription factor, and results in variable degrees of AR function. The condition is X-linked recessive.	Finding site	True	External genitalia structure	Inferred relationship	Some	2
Normal external genitalia	Finding site	True	External genitalia structure	Inferred relationship	Some	2
Injury to external genitalia due to birth trauma (disorder)	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Traumatic amputation of external genital organs	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Genital edema	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Hemorrhage of genital region	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Structure of skin and/or mucosa of external genitalia (body structure)	Is a	True	External genitalia structure	Inferred relationship	Some
Mild androgen insensitivity syndrome	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Multiple injuries of external genitalia (disorder)	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Macrogenitosomia (disorder)	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Male pseudohermaphroditism due to congenital adrenal hyperplasia (disorder)	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Female pseudohermaphroditism due to congenital adrenal hyperplasia	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Male macrogenitosomia praecox	Finding site	True	External genitalia structure	Inferred relationship	Some	3
Macrogenitosomia praecox due to disorder of pineal gland (disorder)	Finding site	True	External genitalia structure	Inferred relationship	Some	1
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Finding site	True	External genitalia structure	Inferred relationship	Some	3
Autosomal recessive Robinow syndrome	Finding site	True	External genitalia structure	Inferred relationship	Some	7
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.	Finding site	True	External genitalia structure	Inferred relationship	Some	7
Finding of quantity of smegma	Finding site	True	External genitalia structure	Inferred relationship	Some	2
Finding of smegma (finding)	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Lack of smegma	Finding site	True	External genitalia structure	Inferred relationship	Some	2
Smegma offensive	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Finding of odor of smegma (finding)	Finding site	True	External genitalia structure	Inferred relationship	Some	2
Excessive smegma (finding)	Finding site	True	External genitalia structure	Inferred relationship	Some	2
Bite wound of external genitalia (disorder)	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Abrasion of genitalia	Finding site	True	External genitalia structure	Inferred relationship	Some	1
Plain X-ray of external genitalia	Procedure site - Direct (attribute)	True	External genitalia structure	Inferred relationship	Some	1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
128078015	External genitalia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503474012	External genitalia structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
817940011	External genitalia structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2832061000005115	Ekstern genitalstruktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)