Bullous dystrophy, hereditary macular type

Preferred Label : Bullous dystrophy, hereditary macular type;

Symbol : HBDM;

CISMeF acronym : EBM;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : EBM; Epidermolysis bullosa, macular type;

Inheritance : X-linked;

Prefixed ID : %302000;

Details

Origin ID

302000;

UMLS CUI

C0795974;

Automatic exact mappings (from CISMeF team)
- Evidence-Based practice [MeSH Descriptor]
- evidence-based medicine [CISMeF Metaterm]
Currated CISMeF NLP mapping
- Bullous dystrophy macular type (disorder) [SNOMED CT concept]
- Hereditary bullous dystrophy, macular type [ORDO Disease]
- bullous dystrophy, hereditary macular type [MeSH concept]
- bullous dystrophy, hereditary macular type [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the nail [HPO term]
- Acrocyanosis [HPO term]
- Alopecia totalis [HPO term]
- Death in childhood [HPO term]
- Dwarfism [HPO term]
- Early death [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Severe short stature [HPO term]
- Short finger [HPO term]
- Short tapering fingers [HPO term]
- Tapered finger [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Hereditary bullous dystrophy, macular type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary bullous dystrophy, macular type [ORDO Disease]
- bullous dystrophy, hereditary macular type [MeSH Supplementary Concept]
- bullous dystrophy, hereditary macular type [MeSH concept]

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