loading...| Preferred Name |
sÃndrome de Hoyeraal-Hreidarsson |
|
| Synonyms |
sÃndrome de Hoyeraal-Hreidarsson (trastorno) |
|
| Definitions |
Trastorno recesivo ligado al cromosoma X muy raro, considerado una variante severa de la disqueratosis congénita, caracterizado por retraso del crecimiento intrauterino, microcefalia, hipoplasia de cerebelo, deficiencia inmunitaria combinada progresiva y anemia aplásica. |
|
| ID |
http://purl.bioontology.org/ontology/SCTSPA/707276009 |
|
| Active |
1 |
|
| altLabel |
sÃndrome de Hoyeraal-Hreidarsson (trastorno) |
|
| CASE SIGNIFICANCE ID |
900000000000017005 |
|
| cui |
C1846142 |
|
| definition |
Trastorno recesivo ligado al cromosoma X muy raro, considerado una variante severa de la disqueratosis congénita, caracterizado por retraso del crecimiento intrauterino, microcefalia, hipoplasia de cerebelo, deficiencia inmunitaria combinada progresiva y anemia aplásica. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20150131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| Module ID |
450829007 |
|
| notation |
707276009 |
|
| Occurs in | ||
| prefLabel |
sÃndrome de Hoyeraal-Hreidarsson |
|
| Subset member |
450828004~ACCEPTABILITYID~900000000000548007 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/305000 | OMIM | CUI | |
| http://purl.bioontology.org/ontology/MESH/C536068 | MESH | CUI | |
| http://purl.bioontology.org/ontology/SNOMEDCT/707276009 | SNOMEDCT | CUI |