Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation

Preferred Label : Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Giuffre-tsukahara syndrome; Tsukahara syndrome;

Prefixed ID : 603438;

Details

Origin ID

603438;

UMLS CUI

C1863881;

Automatic exact mappings (from CISMeF team)
- CRY2 Gene [NCIt concept]
Currated CISMeF NLP mapping
- Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) [SNOMED CT concept]
- Radioulnar synostosis-microcephaly-scoliosis syndrome [ORDO Disease]
- tsukahara syndrome [MeSH concept]
- tsukahara syndrome [MeSH Supplementary Concept]
False automatic mappings
- Cryptochrome-2 [NCIt concept]
ORDO concept(s)
- Radioulnar synostosis-microcephaly-scoliosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Radioulnar synostosis-microcephaly-scoliosis syndrome [ORDO Disease]
- tsukahara syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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