Ichthyosis bullosa of siemens

Preferred Label : Ichthyosis bullosa of siemens;

Symbol : IBS;

CISMeF acronym : IBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosis, bullous type;

Included titles and symbols : Ichthyosis exfoliativa;

Inheritance : Autosomal dominant; ? same as erythroderma ichthyosiformis congenita of Brocq (113800);

Prefixed ID : #146800;

Details

Origin ID

146800;

UMLS CUI

C0432306;

Currated CISMeF NLP mapping
- Ichthyosis Bullosa of Siemens [NCIt concept]
- Ichthyosis bullosa of Siemens (disorder) [SNOMED CT concept]
- Siemens ichthyosis bullosa [PASCAL descriptor]
- Superficial epidermolytic ichthyosis [ORDO Disease]
- bullous congenital ichthyosiform erythroderma [DO Concept]
- ichthyosis bullosa of Siemens [Disease (Nov.)]
- ichthyosis bullosa of siemens [MeSH Descriptor]
- ichthyosis bullosa of siemens [MeSH concept]
DO Cross reference
- bullous congenital ichthyosiform erythroderma [DO Concept]
False automatic mappings
- Bacterial sepsis (disorder) [SNOMED CT concept]
- Irritable Bowel Syndrome [NCIt concept]
- Irritable bowel syndrome [ICD-11 Subcategory]
- irritable bowel syndrome [DO Concept]
- irritable bowel syndrome [MedlinePlus Topic]
Genes related to phenotype
- Keratin 2, type II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital bullous ichthyosiform erythroderma [HPO term]
- Congenital ichthyosis [HPO term]
- Ichthyosis [HPO term]
ORDO concept(s)
- Superficial epidermolytic ichthyosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis Bullosa of Siemens [NCIt concept]
- Ichthyosis bullosa of Siemens (disorder) [SNOMED CT concept]
- Siemens ichthyosis bullosa [PASCAL descriptor]
- Superficial epidermolytic ichthyosis [ORDO Disease]
- bullous congenital ichthyosiform erythroderma [DO Concept]
- ichthyosis bullosa of Siemens [Disease (Nov.)]
- ichthyosis bullosa of siemens [MeSH Descriptor]
- ichthyosis bullosa of siemens [MeSH concept]
Validated automatic mappings to BTNT
- Autosomal recessive exfoliative ichthyosis (disorder) [SNOMED CT concept]
- Exfoliative ichthyosis [ORDO Disease]
- Superficial epidermolytic ichthyosis [ICD-11 More detail]
- ichthyosis exfoliativa [MeSH Supplementary Concept]
- ichthyosis exfoliativa [MeSH concept]

Keyword's position in hierarchy(ies) :

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