loading...| Preferred Name | Androgen resistance syndrome | |
| Synonyms |
Testicular feminisation syndrome Testicular feminization syndrome Androgen insensitivity syndrome Goldberg Maxwell syndrome Morris syndrome Androgen resistance syndrome (disorder) AIS - androgen insensitivity syndrome |
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| Definitions |
A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). A disorder of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/12313004 |
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| Active |
1 |
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| altLabel |
Testicular feminisation syndrome Testicular feminization syndrome Androgen insensitivity syndrome Goldberg Maxwell syndrome Morris syndrome Androgen resistance syndrome (disorder) AIS - androgen insensitivity syndrome |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
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| CTV3ID |
X40Nn |
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| cui |
C0039585 |
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| definition |
A disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). A disorder of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20020131 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
12313004 |
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| Occurs in | ||
| prefLabel |
Androgen resistance syndrome |
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| Subset member |
6011000124106~MAPRULE~IFA 67528009 | Incomplete testicular feminization syndrome (disorder) | 6011000124106~MAPRULE~IFA 269387007 | Testicular lesion in androgen insensitivity syndrome | 6011000124106~MAPRULE~IFA 52832001 | Testicular feminization (disorder) | 6011000124106~MAPTARGET~N46.9 447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 122811000119101 | Partial androgen insensitivity syndrome (disorder) | 6011000124106~MAPRULE~IFA 270369000 | Stromal cell hyperplasia in androgen insensitivity syndrome | 447562003~MAPADVICE~ALWAYS E34.5 6011000124106~MAPRULE~IFA 52832001 | Testicular feminization | 6011000124106~MAPADVICE~IF STROMAL CELL HYPERPLASIA IN ANDROGEN INSENSITIVITY SYNDROME CHOOSE N50.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~E34.50 6011000124106~MAPRULE~IFA 1156317007 | Mild androgen insensitivity syndrome | 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPADVICE~ALWAYS E34.50 | DESCENDANTS NOT EXHAUSTIVELY MAPPED 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPRULE~IFA 122811000119101 | Partial androgen insensitivity syndrome | 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~IF TESTICULAR LESION IN ANDROGEN INSENSITIVITY SYNDROME CHOOSE N50.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF PARTIAL ANDROGEN INSENSITIVITY SYNDROME CHOOSE E34.52 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 6011000124106~MAPADVICE~IF TESTICULAR LESION IN ANDROGEN INSENSITIVITY SYNDROME CHOOSE E34.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~CORRELATIONID~447561005 447562003~MAPTARGET~E34.5 6011000124106~MAPRULE~IFA 236798003 | Androgen resistance - infertile male | 6011000124106~MAPTARGET~E34.52 6011000124106~MAPCATEGORYID~447637006 6011000124106~MAPRULE~IFA 236798003 | Androgen resistance - infertile male (disorder) | 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF MILD ANDROGEN INSENSITIVITY SYNDROME CHOOSE E34.52 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF REIFENSTEIN SYNDROME CHOOSE E34.52 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~E34.51 6011000124106~MAPRULE~IFA 58672003 | Reifenstein syndrome (disorder) | 6011000124106~MAPRULE~IFA 67528009 | Incomplete testicular feminization syndrome | 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS E34.50 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPADVICE~IF COMPLETE ANDROGEN INSENSITIVITY SYNDROME CHOOSE E34.51 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPRULE~IFA 368851000119102 | Complete androgen insensitivity syndrome | 6011000124106~MAPADVICE~IF INCOMPLETE TESTICULAR FEMINIZATION SYNDROME CHOOSE E34.52 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~N50.89 6011000124106~MAPPRIORITY~1 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF STROMAL CELL HYPERPLASIA IN ANDROGEN INSENSITIVITY SYNDROME CHOOSE E34.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 368851000119102 | Complete androgen insensitivity syndrome (disorder) | 6011000124106~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 58672003 | Reifenstein syndrome | 6011000124106~MAPPRIORITY~3 900000000000497000~MAPTARGET~X40Nn 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~IF ANDROGEN RESISTANCE - INFERTILE MALE CHOOSE N46.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF TESTICULAR FEMINIZATION CHOOSE E34.51 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~2 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363290007 http://purl.bioontology.org/ontology/SNOMEDCT/9979004 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/371118004 http://purl.bioontology.org/ontology/SNOMEDCT/363104002 |