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725045004: 46,XY partial gonadal dysgenesis (disorder)

Status: current. Date: 30-Jul 2017

Descriptions:

Id Description Lang Type Status Case? Module
3437403017 46,XY partial gonadal dysgenesis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3437404011 46,XY partial gonadal dysgenesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3437405012 A disorder of sex development associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. The disorder is heterogeneous and associated with partial abnormality of both Leydig cell and Sertoli cell function that may result from deletions or point mutations in the SRY gene or dose sensitive sex (NR0B1) locus duplication on the X chromosome. More important are mutations in steroidogenic factor 1 (SF1, NR5A1, Ad4BP). SF-1 is a nuclear receptor and regulator of multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Therefore, affected patients may also have adrenal insufficiency. Syndromic forms have been associated with WT-1 mutations, which lead to variable testicular dysgenesis and an increased risk of renal abnormalities, namely Wilms tumors or nephrotic syndrome. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3777412018 A disorder of sex development associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. The disorder is heterogeneous and associated with partial abnormality of both Leydig cell and Sertoli cell function that may result from deletions or point mutations in the SRY gene or dose sensitive sex (NR0B1) locus duplication on the X chromosome. More important are mutations in steroidogenic factor 1 (SF1, NR5A1, Ad4BP). SF-1 is a nuclear receptor and regulator of multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Therefore, affected patients may also have adrenal insufficiency. Syndromic forms have been associated with WT-1 mutations, which lead to variable testicular dysgenesis and an increased risk of renal abnormalities, namely Wilms tumours or nephrotic syndrome. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5403373016 A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403374010 A rare disorder/difference of sex development (DSD) characterised by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype. 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
46,XY partial gonadal dysgenesis (disorder) Is a Hereditary disorder of endocrine system (disorder) true SNOMED RT Concept SNOMED RT Concept
46,XY partial gonadal dysgenesis (disorder) Is a Reproductive system hereditary disorder true SNOMED RT Concept SNOMED RT Concept
46,XY partial gonadal dysgenesis (disorder) Is a Congenital anomaly of endocrine gonad (disorder) true SNOMED RT Concept SNOMED RT Concept
46,XY partial gonadal dysgenesis (disorder) Associated morphology Developmental anomaly false SNOMED RT Concept SNOMED RT Concept 1
46,XY partial gonadal dysgenesis (disorder) Occurrence Congenital true SNOMED RT Concept SNOMED RT Concept 1
46,XY partial gonadal dysgenesis (disorder) Finding site Gonadal endocrine structure true SNOMED RT Concept SNOMED RT Concept 1
46,XY partial gonadal dysgenesis (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true SNOMED RT Concept SNOMED RT Concept 1
46,XY partial gonadal dysgenesis (disorder) Pathological process (attribute) Pathological developmental process true SNOMED RT Concept SNOMED RT Concept 1
46,XY partial gonadal dysgenesis (disorder) Is a Developmental hereditary disorder true SNOMED RT Concept SNOMED RT Concept
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

SNOMED RT Concept

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

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