johanson blizzard syndrome

Preferred Label : johanson blizzard syndrome;

MeSH note : mutation in UBR1;

MeSH synonym : nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness; ectodermal Dysplasia-Exocrine pancreatic insufficiency; Malabsorption-Ectodermal Dysplasia-Nasal alar hypoplasia; Johanson-Blizzard syndrome; nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness;

Details

Origin ID

C535880;

UMLS CUI

C0175692;

Automatic exact mappings (from CISMeF team)
- Johanson-Blizzard syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Johanson-Blizzard syndrome [MedDRA Preferred Term]
- Johanson-Blizzard syndrome [Disease (Nov.)]
- Johanson-Blizzard syndrome [DO Concept]
- Johanson-Blizzard syndrome [ORDO Disease]
- Johanson-Blizzard syndrome (disorder) [SNOMED CT concept]
- Johanson-blizzard syndrome [OMIM Phenotype]
- johanson-blizzard syndrome [SNOMED Notion]
DO Cross reference
- Johanson-Blizzard syndrome [DO Concept]
MeSH term(s) associated for indexing
- anus, imperforate [MeSH Descriptor]
- ectodermal dysplasia [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- hypothyroidism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- nose [MeSH Descriptor]
- pancreatic diseases [MeSH Descriptor]
ORDO relation(s)
- Johanson-Blizzard syndrome [ORDO Disease]
Record concept(s)
- Johanson Blizzard syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Johanson-Blizzard syndrome [ORDO Disease]
- Johanson-Blizzard syndrome [MedDRA Preferred Term]
- Johanson-Blizzard syndrome [DO Concept]
- Johanson-Blizzard syndrome [Disease (Nov.)]
- Johanson-Blizzard syndrome (disorder) [SNOMED CT concept]
- Johanson-blizzard syndrome [OMIM Phenotype]
- johanson-blizzard syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

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