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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/765471005
http://purl.bioontology.org/ontology/SNOMEDCT/765471005
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|---|---|
| Preferred Name | X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
| Definitions |
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterised by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.
A rare X-linked intellectual disability syndrome with characteristics of intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.
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| Synonyms |
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)
Young Hughes syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterised by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. A rare X-linked intellectual disability syndrome with characteristics of intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. |
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| altLabel | X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)
Young Hughes syndrome
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| prefLabel | X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000017005
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| notation | 765471005
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| Effective time | 20180731
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| Active | 1
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| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 6011000124106~MAPADVICE~ALWAYS Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~E28.39
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPRULE~IFA 248153007 | Male (finding) |
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~Q87.1
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q87.19
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
6011000124106~MAPADVICE~ALWAYS Q80.9
6011000124106~MAPADVICE~IF MALE CHOOSE E29.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP IS CONTEXT DEPENDENT FOR GENDER
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q80.9
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~E29.1
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~IF FEMALE CHOOSE E28.39 | MAP IS CONTEXT DEPENDENT FOR GENDER
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPGROUP~5
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPGROUP~4
900000000000497000~MAPTARGET~XV5lN
6011000124106~MAPCATEGORYID~447639009
447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~E66.9
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPPRIORITY~3
6011000124106~MAPRULE~IFA 248152002 | Female (finding) |
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
6011000124106~MAPADVICE~ALWAYS E66.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPADVICE~ALWAYS Q87.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XV5lN
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| Occurs in | |
| cui | C0796264
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |