pfeiffer palm teller syndrome

Preferred Label : pfeiffer palm teller syndrome;

MeSH note : Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, and high-pitched voice;

MeSH synonym : Pfeiffer-Palm-Teller syndrome;

Details

Origin ID

C537889;

UMLS CUI

C1849929;

Currated CISMeF NLP mapping
- Pfeiffer-Palm-Teller syndrome [ORDO Disease]
- Pfeiffer-palm-teller syndrome [OMIM Phenotype]
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- dental enamel hypoplasia [MeSH Descriptor]
- facies [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- joint diseases [MeSH Descriptor]
ORDO relation(s)
- Pfeiffer-Palm-Teller syndrome [ORDO Disease]
Record concept(s)
- Pfeiffer Palm Teller syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pfeiffer-Palm-Teller syndrome [ORDO Disease]
- Pfeiffer-palm-teller syndrome [OMIM Phenotype]
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) [SNOMED CT concept]

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