al awadi syndrome

Preferred Label : al awadi syndrome;

CISMeF synonym : Limb/Pelvis Hypoplasia/Aplasia syndrome; Limb/Pelvis-Hypoplasia/Aplasia syndrome; Al-Awadi/Raas-Rothschild syndrome;

MeSH synonym : ulna and fibula absence of with severe limb deficiency; schinzel phocomelia syndrome; al awadi rass rothschild syndrome; ulna and fibula, absence of, with severe limb deficiency; Al-Awadi-Raas-Rothschild Syndrome; Limb-Pelvis Hypoplasia-Aplasia syndrome; Limb-Pelvis-Hypoplasia-Aplasia Syndrome;

Details

Origin ID

C535612;

UMLS CUI

C1848651;

Currated CISMeF NLP mapping
- Phocomelia Schinzel type (disorder) [SNOMED CT concept]
- Phocomelia, Schinzel type [ORDO Disease]
- Phocomelia, Schinzel type [ICD-11 More detail]
- Ulna and fibula, absence of, with severe limb deficiency [OMIM Phenotype]
MeSH term(s) associated for indexing
- amenorrhea [MeSH Descriptor]
- ectromelia [MeSH Descriptor]
- pelvic bones [MeSH Descriptor]
- uterus [MeSH Descriptor]
Record concept(s)
- Al Awadi syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phocomelia Schinzel type (disorder) [SNOMED CT concept]
- Phocomelia, Schinzel type [ORDO Disease]
- Ulna and fibula, absence of, with severe limb deficiency [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients