1208348002: Microcephalic osteodysplastic primordial dwarfism type II (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism type II
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism type II
• \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 primordial dwarfism type II
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism type II
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \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 primordial dwarfism type II
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \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 primordial dwarfism type II
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4963761011	MOPD type II - microcephalic osteodysplastic primordial dwarfism type II	en	Synonym	Active	Case sensitive	SNOMED CT core
4963762016	Majewski osteodysplastic primordial dwarfism type II	en	Synonym	Active	Case sensitive	SNOMED CT core
4963763014	Microcephalic osteodysplastic primordial dwarfism type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4963764015	Microcephalic osteodysplastic primordial dwarfism type II (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4963765019	A rare bone disease and a form of microcephalic primordial dwarfism with characteristics of severe pre and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance and increased risk for cerebrovascular disease. Caused by mutations in PCNT (21q22.3), encoding pericentrin, which anchors a wide range of centrosomal proteins and protein complexes during cell division. Disruption of pericentrin is thought to cause mitotic spindle defects, and impaired cell proliferation. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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