loading...| Preferred Name |
Wolfram syndrome |
|
| Synonyms |
Marquardt-Loriaux syndrome DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome |
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| Definitions |
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/70694009 |
|
| Active |
1 |
|
| altLabel |
Marquardt-Loriaux syndrome Wolfram syndrome (disorder) DIDMOAD syndrome DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
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| CTV3ID |
X008t |
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| cui |
C0043207 |
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| definition |
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive. |
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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 |
http://purl.bioontology.org/ontology/SNOMEDCT/91159003 http://purl.bioontology.org/ontology/SNOMEDCT/113331007 |
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| Has interpretation | ||
| INACTIVATION INDICATOR |
723277005 |
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| interprets | ||
| notation |
70694009 |
|
| prefLabel |
Wolfram syndrome |
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| Subset member |
447562003~MAPADVICE~ALWAYS E23.2 447562003~MAPRULE~TRUE 900000000000490003~VALUEID~723277005 447562003~MAPTARGET~H91.9 447562003~MAPTARGET~H47.2 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPGROUP~2 6011000124106~MAPADVICE~ALWAYS E11.69 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 447562003~MAPADVICE~ALWAYS E14.6 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE 900000000000508004~ACCEPTABILITYID~900000000000549004 900000000000497000~MAPTARGET~X008t 447562003~MAPGROUP~1 6011000124106~MAPTARGET~E11.39 6011000124106~MAPADVICE~ALWAYS H91.90 | CONSIDER LATERALITY SPECIFICATION 447562003~CORRELATIONID~447561005 447562003~MAPADVICE~ALWAYS H91.9 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS E11.39 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 447562003~MAPADVICE~ALWAYS E13.8 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPTARGET~E13.8 6011000124106~MAPTARGET~H91.90 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 447562003~MAPGROUP~4 6011000124106~MAPTARGET~E23.2 6011000124106~MAPGROUP~4 447562003~MAPADVICE~ALWAYS H47.2 447562003~MAPTARGET~E23.2 6011000124106~MAPADVICE~ALWAYS E23.2 6011000124106~MAPTARGET~E11.69 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 447562003~MAPGROUP~3 6011000124106~MAPGROUP~3 900000000000509007~ACCEPTABILITYID~900000000000549004 447562003~MAPTARGET~E14.6 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/312942003 http://purl.bioontology.org/ontology/SNOMEDCT/106018006 http://purl.bioontology.org/ontology/SNOMEDCT/363104002 http://purl.bioontology.org/ontology/SNOMEDCT/46635009 http://purl.bioontology.org/ontology/SNOMEDCT/60700002 http://purl.bioontology.org/ontology/SNOMEDCT/15632891000119109 |