haspeslagh fryns muelenaere syndrome

Preferred Label : haspeslagh fryns muelenaere syndrome;

MeSH synonym : haspeslagh syndrome; mental retardation with pterygia, shortness and distinct facial appearance; distinctive craniofacial features with pterygia and mental retardation; pterygia, mental retardation, and distinctive craniofacial features;

Détails

Origin ID

C535844;

UMLS CUI

C1867443;

Currated CISMeF NLP mapping
- Pterygia, impaired intellectual development, and distinctive craniofacial features [OMIM Phenotype]
- Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) [SNOMED CT concept]
- Short stature-craniofacial anomalies-genital hypoplasia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- facies [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- pterygium [MeSH Descriptor]
Record concept(s)
- Haspeslagh Fryns Muelenaere syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pterygia, impaired intellectual development, and distinctive craniofacial features [OMIM Phenotype]
- Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) [SNOMED CT concept]
- Short stature-craniofacial anomalies-genital hypoplasia syndrome [ORDO Disease]

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