SNOMED CT

Last uploaded: January 31, 2024
Preferred Name

Congenital generalized lipodystrophy

Synonyms

Lawrence-Seip syndrome

Seip's syndrome

ID

http://purl.bioontology.org/ontology/SNOMEDCT/284449005

Active

1

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

CASE SIGNIFICANCE ID

900000000000020002

900000000000448009

900000000000017005

CTV3ID

XU44N

cui

C0221032

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has associated morphology

http://purl.bioontology.org/ontology/SNOMEDCT/4720007

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/67769002

notation

284449005

Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007

prefLabel

Congenital generalized lipodystrophy

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

tui

T047

Type ID

900000000000003001

900000000000013009

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/71325002

http://purl.bioontology.org/ontology/SNOMEDCT/363039000

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10053547 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10053432 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10073668 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10053547 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DB-61720 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10044095 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10053432 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10073666 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/284449005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10053860 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10073668 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181065 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D052497 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10073668 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10010533 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10073666 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10049286 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10073666 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DB-61710 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10053860 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10053860 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10010533 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10010533 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10044095 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10049286 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU053588 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D052497 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/86907008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10044095 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10049286 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10053547 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X40JO RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10053432 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU042895 OMIM CUI
http://www.ebi.ac.uk/efo/EFO_1000681 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0050585 DOID LOOM
http://purl.obolibrary.org/obo/HP_0009059 HP LOOM
http://purl.obolibrary.org/obo/MONDO_0006536 MONDO LOOM
http://purl.obolibrary.org/obo/HP_0009059 UPHENO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10053432 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0006536 DOVES LOOM
http://purl.obolibrary.org/obo/DERMO_0001315 DERMO LOOM
http://www.orpha.net/ORDO/Orphanet_528 ORDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15916 DERMLEX LOOM
http://www.phoc.org.cn/pmo/class/PMO_00001291 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_0050585 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050585 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050585 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050585 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU042895 OMIM LOOM