732263008: Melhem Fahl syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5403631015	Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403632010	Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterised by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3465122014	Melhem Fahl syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3465123016	Melhem Fahl syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5490541000241118	syndrome des quinze vertèbres dorsales et quinze paires de côtes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440351001000116	Melhem-Fahl-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start