juberg hayward syndrome

Preferred Label : juberg hayward syndrome;

CISMeF synonym : cleft Lip/Palate with abnormal thumbs and microcephaly;

MeSH synonym : orocraniodigital syndrome; Juberg-Hayward syndrome; Oral-Facial-Digital syndrome with hypoplastic epiglottis; Oral-Facial-Digital syndrome, type VIII; OFDS VIII; Cleft Lip-Palate With Abnormal Thumbs And Microcephaly;

Détails

Origin ID

C537690;

UMLS CUI

C0796099;

Automatic exact mappings (from CISMeF team)
- Juberg Hayward syndrome (disorder) [SNOMED CT concept]
- Juberg-Hayward syndrome [ICD-11 More detail]
- Orofaciodigital syndrome VIII [OMIM Phenotype]
Currated CISMeF NLP mapping
- Juberg-Hayward syndrome [ORDO Disease]
- Juberg-hayward syndrome [OMIM Phenotype]
- Orocraniodigital syndrome [PASCAL descriptor]
MeSH term(s) associated for indexing
- orofaciodigital syndromes [MeSH Descriptor]
ORDO relation(s)
- Juberg-Hayward syndrome [ORDO Disease]
Record concept(s)
- Juberg Hayward syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juberg Hayward syndrome (disorder) [SNOMED CT concept]
- Juberg-Hayward syndrome [ORDO Disease]
- Juberg-hayward syndrome [OMIM Phenotype]
- Orocraniodigital syndrome [PASCAL descriptor]

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