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

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Facial bone finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\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
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\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
\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
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Finding of head region\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\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
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

\Skull finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Skull finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Skull finding\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Skull finding\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

\Disorder of head\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal 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\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal 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\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\Bone finding\Skull finding\Maxilla finding\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal 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\Bone finding\Skull finding\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\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\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder 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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Disorder of skull\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Disorder 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 of skull\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Disorder of face\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 of face\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\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of maxilla\Maxillary anomaly\Hypoplasia of maxillary bone\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Disorder of head\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 of jaw\Congenital anomaly of jaw\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of maxilla\Congenital maxillary hypoplasia\Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3431107019 Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Finding site	Bone structure of maxilla	true	Inferred relationship	Some	1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Is a	Congenital maxillary hypoplasia	true	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Is a	Craniofacial microsomia	false	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Finding site	Structure of metaphysis	true	Inferred relationship	Some	2
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	Finding site	Bone structure of maxilla	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3431106011	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3431107019	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core