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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/719685004
http://purl.bioontology.org/ontology/SNOMEDCT/719685004
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|---|---|
| Preferred Name | Absent thumb with short stature and immunodeficiency syndrome |
| Definitions |
An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.
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| Synonyms |
Absent thumb with short stature and immunodeficiency syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
|---|---|
| altLabel | Absent thumb with short stature and immunodeficiency syndrome (disorder)
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| prefLabel | Absent thumb with short stature and immunodeficiency syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 719685004
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| Effective time | 20170131
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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 | |
| type | |
| Subset member | 6011000124106~MAPADVICE~ALWAYS Q87.19 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~D84.89
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
6011000124106~MAPTARGET~Q87.1
900000000000497000~MAPTARGET~XUu5M
6011000124106~MAPTARGET~Q87.19
447562003~MAPGROUP~1
6011000124106~MAPTARGET~D84.8
447562003~MAPADVICE~ALWAYS D82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
447562003~MAPTARGET~Q87.1
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q71.30 | CONSIDER LATERALITY SPECIFICATION
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
6011000124106~MAPTARGET~Q71.30
447562003~MAPCATEGORYID~447637006
447562003~MAPTARGET~D82.8
6011000124106~MAPPRIORITY~1
6011000124106~MAPADVICE~ALWAYS D84.89
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.1
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPADVICE~ALWAYS D84.8
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 | T019
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| CTV3ID | XUu5M
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| Occurs in | |
| cui | C4304503
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| Has associated morphology |
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