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733605002: XY type gonadal dysgenesis with associated anomalies syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3500044015 XY type gonadal dysgenesis with associated anomalies syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3500045019 XY type gonadal dysgenesis with associated anomalies syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3500046018 Gonadal dysgenesis XY type with associated anomalies en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403829010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403830017 A rare syndrome with 46,XY disorder of sex development characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a Cleft palate with cleft lip true Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a Pure gonadal dysgenesis 46,XY true Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Finding site Lip structure true Inferred relationship Some 3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Finding site Gonadal structure false Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 5
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 5
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Finding site Gonadal structure true Inferred relationship Some 2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Finding site Palatal structure true Inferred relationship Some 1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Finding site Bone structure of head false Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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