724145007: Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Finding of head region\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Skull finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Skull finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Skull finding\Disease of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Skull finding\Disease of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Skull finding\Disease of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Facial bone finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Facial bone finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Skull finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Skull finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disease of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Disorder of head (disorder)\Disorder of jaw\Congenital anomaly of jaw (disorder)\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw (disorder)\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Craniofacial microsomia (disorder)\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

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
3431106011	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431107019	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403249014	Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403250014	Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterised by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431106011	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431107019	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3431108012	Syndrome with characteristics of metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. There is evidence this syndrome is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403249014	Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403250014	Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome is characterised by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3395491001000114	Dysplasie, metaphysäre - Maxillahypoplasie - Brachydaktylie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6356651000241117	syndrome de dysplasie métaphysaire, hypoplasie maxillaire et brachydactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6356651000241117	syndrome de dysplasie métaphysaire, hypoplasie maxillaire et brachydactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395491001000114	Dysplasie, metaphysäre - Maxillahypoplasie - Brachydaktylie	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)

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