lujan fryns syndrome

Preferred Label : lujan fryns syndrome;

MeSH synonym : mental retardation, X-linked, with marfanoid habitus; marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies; Lujan-Fryns syndrome; X-Linked Intellectual Deficit with Marfanoid Habitus; X-Linked Mental Retardation with Marfanoid Habitus; XLMR with Marfanoid Features; Lujan Syndrome;

Details

Origin ID

C537724;

UMLS CUI

C0796022;

Automatic exact mappings (from CISMeF team)
- X-linked intellectual disability with marfanoid habitus (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Intellectual developmental disorder, X-linked, syndromic, lujan-fryns type [OMIM Phenotype]
- Lujan-Fryns syndrome [ORDO Disease]
- X-linked intellectual deficit with marfanoid habitus [ICD-11 More detail]
DO Cross reference
- syndromic X-linked intellectual disability 14 [DO Concept]
Has phenotype(s) (HPO)
- Broad phalanges of the thumb [HPO term]
- High nasal bridge [HPO term]
- High-arched palate [HPO term]
- Hypernasal speech [HPO term]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- marfan syndrome [MeSH Descriptor]
Record concept(s)
- Lujan Fryns syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, lujan-fryns type [OMIM Phenotype]
- Lujan-Fryns syndrome [ORDO Disease]
- X-linked intellectual disability with marfanoid habitus (disorder) [SNOMED CT concept]
- syndromic X-linked intellectual disability 14 [DO Concept]

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