loading...| Preferred Name |
CLAPO syndrome |
|
| Synonyms |
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) |
|
| Definitions |
A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalized in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/717765001 |
|
| Active |
1 |
|
| altLabel |
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome CLAPO (capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth) syndrome |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUuCH |
|
| cui |
C2751313 |
|
| definition |
A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalized in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known. A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalised overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalised in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20170131 |
|
| Has associated morphology | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/89545001 http://purl.bioontology.org/ontology/SNOMEDCT/20982000 |
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| Has pathological process | ||
| notation |
717765001 |
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| Occurs in | ||
| prefLabel |
CLAPO syndrome |
|
| Subset member |
6011000124106~MAPTARGET~Q27.8 447562003~MAPRULE~TRUE 900000000000497000~MAPTARGET~XUuCH 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS Q74.8 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q87.3 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPGROUP~4 6011000124106~MAPADVICE~ALWAYS Q27.8 6011000124106~MAPPRIORITY~1 447562003~MAPTARGET~Q87.3 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~ALWAYS Q87.3 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 447562003~MAPADVICE~ALWAYS Q87.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPTARGET~Q67.0 6011000124106~MAPTARGET~Q74.8 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS Q67.0 |
|
| tui |
T047 T019 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/23359005 http://purl.bioontology.org/ontology/SNOMEDCT/48637007 |