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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1237345002
http://purl.bioontology.org/ontology/SNOMEDCT/1237345002
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|---|---|
| Preferred Name | 46,XX ovarian dysgenesis, short stature syndrome |
| Definitions |
A rare genetic disorder with difference 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.
A rare genetic disorder with difference 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.
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.
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.
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| Synonyms |
46,XX ovarian dysgenesis, short stature syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic disorder with difference 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. A rare genetic disorder with difference 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. 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. 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. |
|---|---|
| prefLabel | 46,XX ovarian dysgenesis, short stature syndrome
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| altLabel | 46,XX ovarian dysgenesis, short stature syndrome (disorder)
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20220930
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| cui | C4015409
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| Has pathological process | |
| CTV3ID | XVJ20
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID | 900000000000020002
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| Occurs in | |
| tui | T047
|
| Active | 1
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| Has associated morphology | |
| notation | 1237345002
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| type | |
| subClassOf |
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| Subset member |
6011000124106~MAPTARGET~E34.328
447562003~MAPRULE~TRUE
447562003~MAPADVICE~ALWAYS Q96.8
6011000124106~MAPADVICE~ALWAYS E34.328
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q96.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q96.8
447562003~MAPTARGET~Q96.8
900000000000497000~MAPTARGET~XVJ20
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
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