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725045004: 46,XY partial gonadal dysgenesis (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
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
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 Inferred relationship Some
46,XY partial gonadal dysgenesis (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
46,XY partial gonadal dysgenesis (disorder) Is a Congenital anomaly of endocrine gonad (disorder) true Inferred relationship Some
46,XY partial gonadal dysgenesis (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
46,XY partial gonadal dysgenesis (disorder) Occurrence Congenital true Inferred relationship Some 1
46,XY partial gonadal dysgenesis (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 1
46,XY partial gonadal dysgenesis (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
46,XY partial gonadal dysgenesis (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
46,XY partial gonadal dysgenesis (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)

GB English

US English

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