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loading...| Preferred Name |
sÃndrome de blefarofimosis-retardo mental, tipo Maat-Kievit-Brunner |
|
| Synonyms |
sÃndrome de blefarofimosis-retardo mental, tipo Maat-Kievit-Brunner (trastorno) sÃndrome de Ohdo ligado al cromosoma X |
|
| ID |
http://purl.bioontology.org/ontology/SCTSPA/699297004 |
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| Active |
1 |
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| altLabel |
sÃndrome de blefarofimosis-retardo mental, tipo Maat-Kievit-Brunner (trastorno) sÃndrome de Ohdo ligado al cromosoma X |
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| CASE SIGNIFICANCE ID |
900000000000017005 |
|
| cui |
C3698541 |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20140131 |
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| Has associated morphology | ||
| Has finding site | ||
| Has interpretation | ||
| Has pathological process | ||
| interprets | ||
| Module ID |
450829007 |
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| notation |
699297004 |
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| Occurs in | ||
| prefLabel |
sÃndrome de blefarofimosis-retardo mental, tipo Maat-Kievit-Brunner |
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| Subset member |
450828004~ACCEPTABILITYID~900000000000549004 450828004~ACCEPTABILITYID~900000000000548007 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SCTSPA/788584007 http://purl.bioontology.org/ontology/SCTSPA/363070008 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/300895 | OMIM | CUI | |
| http://purl.bioontology.org/ontology/SNOMEDCT/699297004 | SNOMEDCT | CUI | |
| http://purl.bioontology.org/ontology/OMIM/300188 | OMIM | CUI |