Hall-riggs syndrome

Preferred Label : Hall-riggs syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Hall-riggs mental retardation syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 234250;

Details

Origin ID

234250;

UMLS CUI

C1856198;

Automatic exact mappings (from CISMeF team)
- Hall Riggs mental retardation syndrome [MeSH concept]
- hall riggs mental retardation syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Hall Riggs syndrome (disorder) [SNOMED CT concept]
- Hall-Riggs syndrome [ORDO Disease]
HPO term(s)
- Absent speech [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Full lips [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the primary teeth [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Irregular vertebral endplates [HPO term]
- Kyphosis [HPO term]
- Large nose [HPO term]
- Metaphyseal dysplasia [HPO term]
- Microcephaly [HPO term]
- Microdontia of primary teeth [HPO term]
- Mild brachydactyly [HPO term]
- Osteoporosis [HPO term]
- Platyspondyly [HPO term]
- Prominent nose [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Thick lower lip vermilion [HPO term]
- U-Shaped upper lip vermilion [HPO term]
ORDO concept(s)
- Hall-Riggs syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hall Riggs mental retardation syndrome [MeSH concept]
- Hall Riggs syndrome (disorder) [SNOMED CT concept]
- Hall-Riggs syndrome [ORDO Disease]
- hall riggs mental retardation syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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