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1237345002: 46,XX ovarian dysgenesis, short stature syndrome (disorder)


Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5097823010 46,XX ovarian dysgenesis, short stature syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
5097824016 46,XX ovarian dysgenesis, short stature syndrome en Synonym Active Initial character case insensitive SNOMED CT core
5097821012 A rare genetic disorder of sex development characterised by primary amenorrhoea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinising hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair and normal 46,XX karyotype. en Definition Active Case sensitive SNOMED CT core
5097822017 A rare genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair and normal 46,XX karyotype. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
46,XX ovarian dysgenesis, short stature syndrome Is a Ovarian dysgenesis true Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a Short stature disorder true Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a Developmental hereditary disorder true Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a 46,XX disorder of sex development true Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Interprets Hormone secretion true Inferred relationship Some 2
46,XX ovarian dysgenesis, short stature syndrome Has interpretation Decreased true Inferred relationship Some 2
46,XX ovarian dysgenesis, short stature syndrome Interprets Body height measure true Inferred relationship Some 3
46,XX ovarian dysgenesis, short stature syndrome Has interpretation Below reference range true Inferred relationship Some 3
46,XX ovarian dysgenesis, short stature syndrome Occurrence Congenital true Inferred relationship Some 1
46,XX ovarian dysgenesis, short stature syndrome Finding site Ovarian endocrine structure true Inferred relationship Some 1
46,XX ovarian dysgenesis, short stature syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
46,XX ovarian dysgenesis, short stature syndrome Pathological process Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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