Satoyoshi syndrome

Preferred Label : Satoyoshi syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Komuragaeri disease; Muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities;

Description : Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means calf and 'gaeri' means 'turnover' or spasm. All cases have apparently been sporadic, even when occurring in large families (Ehlayel and Lacassie, 1995).;

Inheritance : Isolated cases;

Laboratory abnormalities : Mildly increased serum creatine kinase; Increased serum uric acid;

Prefixed ID : 600705;

Details

Origin ID

600705;

UMLS CUI

C1833454;

Automatic exact mappings (from CISMeF team)
- Satoyoshi syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Satoyoshi syndrome [Disease (Nov.)]
- Satoyoshi syndrome [MeSH concept]
- Satoyoshi syndrome [ORDO Disease]
- Satoyoshi syndrome [MedDRA Preferred Term]
- satoyoshi syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the musculature [HPO term]
- All cases sporadic [HPO term]
- Alopecia [HPO term]
- Alopecia universalis [HPO term]
- Amenorrhea [HPO term]
- Brachydactyly [HPO term]
- Diarrhea [HPO term]
- Fatigue [HPO term]
- Genu valgum [HPO term]
- Hypoplasia of the uterus [HPO term]
- Malabsorption [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle spasm [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Pes planus [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short stature [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Satoyoshi syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Satoyoshi syndrome [MedDRA Preferred Term]
- Satoyoshi syndrome [ORDO Disease]
- Satoyoshi syndrome [MeSH concept]
- Satoyoshi syndrome [Disease (Nov.)]
- Satoyoshi syndrome (disorder) [SNOMED CT concept]
- satoyoshi syndrome [MeSH Supplementary Concept]

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