loading...| Preferred Name |
Autosomal dominant palmoplantar keratoderma and congenital alopecia |
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| Synonyms |
Palmoplantar keratoderma and congenital alopecia Stevanovic type |
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| Definitions |
A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/719518004 |
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| Active |
1 |
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| altLabel |
Palmoplantar keratoderma and congenital alopecia Stevanovic type Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
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| CTV3ID |
XUtx3 |
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| cui |
C4304669 |
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| definition |
A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20170131 |
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| Has associated morphology |
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/37136002 http://purl.bioontology.org/ontology/SNOMEDCT/70887009 |
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| Has pathological process | ||
| notation |
719518004 |
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| Occurs in | ||
| prefLabel |
Autosomal dominant palmoplantar keratoderma and congenital alopecia |
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| Subset member |
6011000124106~MAPADVICE~ALWAYS Q84.0 447562003~MAPRULE~TRUE 447562003~MAPTARGET~Q84.0 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPGROUP~2 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 447562003~MAPADVICE~ALWAYS Q84.0 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 6011000124106~MAPTARGET~Q84.0 900000000000509007~ACCEPTABILITYID~900000000000549004 900000000000497000~MAPTARGET~XUtx3 |
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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/254154003 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 |