loading...| Preferred Name |
Absence of fingerprints with congenital milia syndrome |
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| Synonyms |
Absence of dermatoglyphics with congenital milia syndrome |
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| Definitions |
This syndrome has characteristics of neonatal blisters, milia and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/719595002 |
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| Active |
1 |
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| altLabel |
Absence of dermatoglyphics with congenital milia syndrome Absence of fingerprints with congenital milia syndrome (disorder) Baird syndrome |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
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| CTV3ID |
XUu3O |
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| cui |
C4304581 |
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| definition |
This syndrome has characteristics of neonatal blisters, milia and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20170131 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
719595002 |
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| Occurs in | ||
| prefLabel |
Absence of fingerprints with congenital milia syndrome |
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| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 6011000124106~MAPTARGET~Q82.8 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPTARGET~Q82.8 900000000000497000~MAPTARGET~XUu3O 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 447562003~MAPADVICE~ALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS Q82.8 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/83145004 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/SCTSPA/719595002 | SCTSPA | CUI |