Tsukahara syndrome

Preferred Label : Tsukahara syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 613627;

Details

Origin ID

613627;

UMLS CUI

C3150890;

Currated CISMeF NLP mapping
- Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) [SNOMED CT concept]
- tsukahara syndrome [MeSH concept]
False automatic mappings
- Radioulnar synostosis-microcephaly-scoliosis syndrome [ORDO Disease]
HPO term(s)
- Aplasia/Hypoplasia of toe [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Bulbous nose [HPO term]
- Chronic otitis media [HPO term]
- Epicanthus [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Mixed hearing impairment [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Short metatarsal [HPO term]
- Short middle phalanx of finger [HPO term]
- Short proximal phalanx of finger [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Upslanted palpebral fissure [HPO term]
See also inter- (CISMeF)
- tsukahara syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) [SNOMED CT concept]
- tsukahara syndrome [MeSH Supplementary Concept]

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