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SNOMED CT
Last uploaded:
January 16, 2025
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| Preferred Name | Ehlers-Danlos syndrome, hydroxylysine-deficient | |
| Synonyms |
Ehlers-Danlos syndrome, lysyl hydroxylase deficient Ehlers-Danlos syndrome type 6A Hydroxylysine-deficient collagen disease Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Protocollagen lysyl hydroxylase deficiency Ocular scoliotic EDS (Ehlers-Danlos syndrome) |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/25606004 |
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| Active |
1
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| altLabel |
Ehlers-Danlos syndrome, lysyl hydroxylase deficient Ehlers-Danlos syndrome type 6A Hydroxylysine-deficient collagen disease Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Protocollagen lysyl hydroxylase deficiency Ocular scoliotic EDS (Ehlers-Danlos syndrome)
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005
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| CTV3ID |
PGy25
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| cui |
C0268342
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| DEFINITION STATUS ID |
900000000000074008
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| Effective time |
20020131
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| Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/61051007 http://purl.bioontology.org/ontology/SNOMEDCT/25723000 |
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| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/39937001 http://purl.bioontology.org/ontology/SNOMEDCT/289959001 |
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| Has pathological process | ||
| INACTIVATION INDICATOR |
900000000000485001 900000000000483008 723278000
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| notation |
25606004
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| Occurs in | ||
| prefLabel |
Ehlers-Danlos syndrome, hydroxylysine-deficient
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| Subset member |
447562003~MAPRULE~TRUE 900000000000531004~TARGETCOMPONENT~718211004 6011000124106~MAPADVICE~ALWAYS Q79.69 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPADVICE~IF CORNEAL FRAGILITY KERATOGLOBUS, BLUE SCLERAE AND JOINT HYPERMOBILITY CHOOSE Q75.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPRULE~IFA 31798004 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility | 6011000124106~MAPTARGET~Q79.69 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPRULE~IFA 86667008 | Ehlers-Danlos syndrome, dominant type 4 | 6011000124106~MAPRULE~IFA 31798004 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility (disorder) | 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 447562003~MAPADVICE~ALWAYS Q79.6 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 900000000000490003~VALUEID~900000000000485001 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF EHLERS-DANLOS SYNDROME, RECESSIVE TYPE 4 CHOOSE Q79.63 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPTARGET~Q75.3 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPRULE~IFA 70610001 | Ehlers-Danlos syndrome, recessive type 4 | 6011000124106~MAPTARGET~Q79.63 6011000124106~MAPADVICE~IF EHLERS-DANLOS SYNDROME, DOMINANT TYPE 4 CHOOSE Q79.63 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPTARGET~Q79.6 900000000000490003~VALUEID~900000000000483008 6011000124106~MAPPRIORITY~1 900000000000490003~VALUEID~723278000 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 6011000124106~MAPPRIORITY~3 6011000124106~MAPADVICE~ALWAYS Q79.6 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPTARGET~Q79.6 900000000000497000~MAPTARGET~PGy25
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| tui |
T047
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| Type ID |
900000000000003001 900000000000013009
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| subClassOf |
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