716195006: syndroom van autosomaal recessieve 'brachyolmia' en amelogenesis imperfecta (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta (disorder)\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305046014	Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305047017	Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305048010	Platyspondyly amelogenesis imperfecta	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305049019	Verloes Bourguignon syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305050019	Brachyolmia and amelogenesis imperfecta syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7879781000146110	syndroom van autosomaal recessieve 'brachyolmia' en amelogenesis imperfecta	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7879791000146112	syndroom van autosomaal recessieve 'brachyolmia' en amelogenesis imperfecta (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3305051015	An exceedingly rare form of brachyolmia with characteristics of mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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