Preferred Name |
Congenital generalized lipodystrophy |
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Synonyms |
Lawrence-Seip syndrome Seip's syndrome |
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ID |
http://purl.bioontology.org/ontology/SNOMEDCT/284449005 |
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Active |
1 |
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altLabel |
Lawrence-Seip syndrome Congenital generalised lipodystrophy Lipoatrophic diabetes mellitus Beradinelli-Seip syndrome Congenital total lipodystrophy (disorder) Berardinelli's syndrome Total lipoatrophy Berardinelli-Seip congenital lipodystrophy Congenital total lipodystrophy Seip's syndrome |
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CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
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CTV3ID |
XU44N |
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cui |
C0221032 |
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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 | ||
notation |
284449005 |
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Occurs in | ||
prefLabel |
Congenital generalized lipodystrophy |
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Subset member |
6011000124106~MAPRULE~IFA 721973006 | Lipodystrophy, intellectual disability, deafness syndrome | 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~IF LIPODYSTROPHY, INTELLECTUAL DISABILITY, DEAFNESS SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~F78.A9 447562003~MAPADVICE~ALWAYS E88.1 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~IF GENERALIZED CONGENITAL LIPODYSTROPHY WITH MYOPATHY CHOOSE E88.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 447562003~CORRELATIONID~447561005 447562003~MAPTARGET~E88.1 6011000124106~MAPRULE~IFA 721973006 | Lipodystrophy, intellectual disability, deafness syndrome (disorder) | 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000497000~MAPTARGET~XU44N 6011000124106~MAPADVICE~IF GENERALIZED CONGENITAL LIPODYSTROPHY WITH MYOPATHY CHOOSE M63.80 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~E88.1 6011000124106~MAPTARGET~H91.90 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPADVICE~IF LIPODYSTROPHY, INTELLECTUAL DISABILITY, DEAFNESS SYNDROME CHOOSE H91.90 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF LIPODYSTROPHY, INTELLECTUAL DISABILITY, DEAFNESS SYNDROME CHOOSE H91.90 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPRULE~IFA 1156814008 | Generalized congenital lipodystrophy with myopathy | 6011000124106~MAPADVICE~IF LIPODYSTROPHY, INTELLECTUAL DISABILITY, DEAFNESS SYNDROME CHOOSE E88.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~ALWAYS E88.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~IF LIPODYSTROPHY, INTELLECTUAL DISABILITY, DEAFNESS SYNDROME CHOOSE F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~2 6011000124106~MAPTARGET~M63.80 |
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tui |
T047 |
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Type ID |
900000000000003001 900000000000013009 |
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subClassOf |