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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
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
3500043014 An association syndrome described only once in two sisters. They had a 46,XY karyotype, cleft lip and palate, preauricular pits and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. en Definition Active Entire term case sensitive (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
3445481001000114 Gonadendysgenesie XY-Typ - multiple Fehlbildungen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876991000172111 syndrome de dysgénésie gonadique-anomalies multiples fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876991000172111 syndrome de dysgénésie gonadique-anomalies multiples fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445481001000114 Gonadendysgenesie XY-Typ - multiple Fehlbildungen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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

Reference Sets

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

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