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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/718632004
http://purl.bioontology.org/ontology/SNOMEDCT/718632004
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|---|---|
| Preferred Name | Self-healing collodion baby |
| Definitions |
A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive.
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterised by the presence of a collodion membrane at birth that heals within the first weeks of life.
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
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| Synonyms |
Self-healing collodion baby (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive. Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterised by the presence of a collodion membrane at birth that heals within the first weeks of life. Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. |
|---|---|
| prefLabel | Self-healing collodion baby
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| altLabel | Self-healing collodion baby (disorder)
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20170131
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| cui | C1855789
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| Has pathological process | |
| CTV3ID | XUttl
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID | 900000000000448009
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| Occurs in | |
| tui |
T047
T019
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| Active | 1
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| Has associated morphology | |
| notation | 718632004
|
| type | |
| subClassOf | |
| Subset member |
6011000124106~MAPTARGET~Q80.2
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
900000000000497000~MAPTARGET~XUttl
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS Q80.2
447562003~MAPTARGET~Q80.2
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
447562003~MAPADVICE~ALWAYS Q80.2
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