Buttiens-Fryns syndrome

Preferred Label : Buttiens-Fryns syndrome;

ICD-11 definition : The distal limb deficiencies-micrognathia syndrome is the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.;

ICD-11 synonym : Distal limb deficiencies - micrognathia syndrome; 10q24 duplication; 10q24 duplication syndrome; Trisomy 10q24;

Details

Origin ID

223906443;

Currated CISMeF NLP mapping
- Distal limb deficiencies-micrognathia syndrome [ORDO Disease]
- Distal limb deficiency with micrognathia syndrome (disorder) [SNOMED CT concept]
- Split-hand/foot malformation 3 [OMIM Phenotype]
- limb deficiencies, distal, with micrognathia [MeSH Supplementary Concept]
- limb deficiencies, distal, with micrognathia [MeSH concept]
See also inter- (CISMeF)
- Split-Hand/Foot Malformation Type 3 [NCIt concept]
- split hand-foot malformation 3 [DO Concept]

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