rapadilino syndrome

Preferred Label : rapadilino syndrome;

MeSH note : Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate;

MeSH synonym : radial and patellar aplasia; radial and patellar hypoplasia;

Details

Origin ID

C535288;

UMLS CUI

C1849453;

Automatic exact mappings (from CISMeF team)
- RAPADILINO syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- RAPADILINO syndrome [ORDO Disease]
- RAPADILINO syndrome (disorder) [SNOMED CT concept]
- Rapadilino syndrome [OMIM Phenotype]
- rapadilino syndrome [DO Concept]
DO Cross reference
- rapadilino syndrome [DO Concept]
Has phenotype(s) (HPO)
- High-arched palate [HPO term]
- Mottled or stippled pigmentation [HPO term]
- Radial aplasia/hypoplasia [HPO term]
MeSH term(s) associated for indexing
- anal canal [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- heart septal defects, atrial [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- patella [MeSH Descriptor]
- radius [MeSH Descriptor]
- rothmund-thomson syndrome [MeSH Descriptor]
ORDO relation(s)
- RAPADILINO syndrome [ORDO Disease]
Record concept(s)
- Rapadilino syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- RAPADILINO syndrome [ORDO Disease]
- RAPADILINO syndrome (disorder) [SNOMED CT concept]
- Rapadilino syndrome [OMIM Phenotype]
- Rapadilino syndrome [MedDRA Preferred Term]
- rapadilino syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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