loading...| Preferred Name | recessive dystrophic epidermolysis bullosa | |
| Synonyms |
severe generalised recessive dystrophic epidermolysis bullosa severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa severe generalised RDEB epidermolysis bullosa dystrophica, autosomal recessive epidermolysis bullosa dystrophica, generalised severe, autosomal recessive recessive dystrophic epidermolysis bullosa, severe generalised epidermolysis bullosa dystrophica, Hallopeau-Siemens type RDEB, severe generalised epidermolysis bullosa dystrophica inversa, autosomal recessive dystrophic epidermolysis bullosa, autosomal recessive epidermolysis bullosa dystrophica, generalized severe, autosomal recessive RDEB, severe generalized RDEB recessive dystrophic epidermolysis bullosa, severe generalized epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) epidermolysis bullosa dystrophica, autosomal recessive, modifier of RDEB generalisata gravis EBD inversa autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis epidermolysis bullosa dystrophica, AR RDEB, Hallopeau-Siemens type RDEB-sev gen |
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| Definitions |
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009179 |
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| database_cross_reference |
SCTID:48528004 ICD9:757.39 Orphanet:79408 OMIM:226600 GARD:6308 DOID:0060642 |
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| definition |
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
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| exactMatch |
http://identifiers.org/snomedct/48528004 |
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| has_exact_synonym |
epidermolysis bullosa dystrophica, autosomal recessive, modifier of RDEB generalisata gravis EBD inversa autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis epidermolysis bullosa dystrophica, AR RDEB, Hallopeau-Siemens type RDEB-sev gen |
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| has_narrow_synonym |
severe generalised recessive dystrophic epidermolysis bullosa severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa severe generalised RDEB |
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| has_related_synonym |
epidermolysis bullosa dystrophica, autosomal recessive epidermolysis bullosa dystrophica, generalised severe, autosomal recessive recessive dystrophic epidermolysis bullosa, severe generalised epidermolysis bullosa dystrophica, Hallopeau-Siemens type RDEB, severe generalised epidermolysis bullosa dystrophica inversa, autosomal recessive dystrophic epidermolysis bullosa, autosomal recessive epidermolysis bullosa dystrophica, generalized severe, autosomal recessive RDEB, severe generalized RDEB recessive dystrophic epidermolysis bullosa, severe generalized epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) |
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| IAO_0000233 | ||
| id |
MONDO:0009179 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
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| label |
recessive dystrophic epidermolysis bullosa |
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| notation |
MONDO:0009179 |
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| prefLabel |
recessive dystrophic epidermolysis bullosa |
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| treeView | ||
| subClassOf |