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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/59252009
http://purl.bioontology.org/ontology/SNOMEDCT/59252009
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|---|---|
| Preferred Name | de Barsey syndrome |
| Definitions |
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
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| Synonyms |
Autosomal recessive cutis laxa type III
de Barsey syndrome (disorder)
Progeroid syndrome of de Barsey
de Barsey-Moens-Dierckx syndrome
Cutis laxa-corneal clouding-oligophrenia syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. |
|---|---|
| altLabel |
Autosomal recessive cutis laxa type III
de Barsey syndrome (disorder)
Progeroid syndrome of de Barsey
de Barsey-Moens-Dierckx syndrome
Cutis laxa-corneal clouding-oligophrenia syndrome
|
| prefLabel | de Barsey syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
900000000000017005
|
| notation | 59252009
|
| Effective time | 20020131
|
| Active | 1
|
| Has finding site | |
| INACTIVATION INDICATOR | 900000000000483008
|
| interprets | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~Q87.0
6011000124106~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
6011000124106~MAPTARGET~Q87.89
447562003~CORRELATIONID~447561005
6011000124106~MAPRULE~IFA 1295488006 | Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome |
6011000124106~MAPADVICE~IF PYRROLINE-5-CARBOXYLATE REDUCTASE 1 RELATED DE BARSY SYNDROME CHOOSE Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPRULE~IFA 1295485009 | ALDH18A1-related de Barsy syndrome |
900000000000497000~MAPTARGET~XUH9P
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~IF ALDH18A1-RELATED DE BARSY SYNDROME CHOOSE Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPCATEGORYID~447639009
900000000000490003~VALUEID~900000000000483008
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.8
6011000124106~MAPRULE~TRUE
6011000124106~MAPPRIORITY~3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
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| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
|
| CTV3ID | XUH9P
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| Occurs in | |
| cui | C0268354
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| Has associated morphology |
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