723404002: Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteoplastic dysplasia\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic dysplasia Saul Wilson type

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424446015	Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3424447012	Microcephalic osteodysplastic dysplasia Saul Wilson type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3424448019	A skeletal dysplasia with distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (including irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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