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95218005: Pure gonadal dysgenesis 46,XY (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
157736019 Pure gonadal dysgenesis 46,XY en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
157737011 Swyer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
839325015 Pure gonadal dysgenesis 46,XY (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7140111000241119 dysgénésie gonadique pure 46,XY fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3410181001000117 46,XY-Gonadendysgenesie, vollständige de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pure gonadal dysgenesis 46,XY Is a Pure gonadal dysgenesis true Inferred relationship Some
Pure gonadal dysgenesis 46,XY Associated morphology anomalie du développement false Inferred relationship Some 2
Pure gonadal dysgenesis 46,XY Associated morphology anomalie du développement false Inferred relationship Some 2
Pure gonadal dysgenesis 46,XY Finding site Gonadal structure false Inferred relationship Some 2
Pure gonadal dysgenesis 46,XY Finding site Entire genital organ (body structure) false Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Occurrence Congenital false Inferred relationship Some
Pure gonadal dysgenesis 46,XY Course Multiple superficial injuries of lower leg false Inferred relationship Some
Pure gonadal dysgenesis 46,XY Associated morphology anomalie congénitale false Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Finding site Genital structure false Inferred relationship Some 4
Pure gonadal dysgenesis 46,XY Occurrence Congenital false Inferred relationship Some
Pure gonadal dysgenesis 46,XY Finding site Genital structure false Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Associated morphology Congenital malformation false Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Associated morphology anomalie congénitale du développement false Inferred relationship Some 2
Pure gonadal dysgenesis 46,XY Finding site Genital structure false Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Finding site Gonadal structure false Inferred relationship Some 2
Pure gonadal dysgenesis 46,XY Associated morphology anomalie congénitale du développement false Inferred relationship Some 2
Pure gonadal dysgenesis 46,XY Associated morphology Congenital malformation false Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Occurrence Congenital false Inferred relationship Some 3
Pure gonadal dysgenesis 46,XY Associated morphology anomalie du développement false Inferred relationship Some 3
Pure gonadal dysgenesis 46,XY Finding site Gonadal structure false Inferred relationship Some 3
Pure gonadal dysgenesis 46,XY Occurrence Congenital true Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Finding site Gonadal structure true Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. Is a True Pure gonadal dysgenesis 46,XY Inferred relationship Some
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Is a True Pure gonadal dysgenesis 46,XY Inferred relationship Some
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Is a True Pure gonadal dysgenesis 46,XY Inferred relationship Some

Reference Sets

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