1208348002: Microcephalic osteodysplastic primordial dwarfism type II (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \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\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \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\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Primordial dwarfism\Osteodysplastic primordial dwarfism\Microcephalic osteodysplastic primordial dwarfism type II (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4963762016	Majewski osteodysplastic primordial dwarfism type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963763014	Microcephalic osteodysplastic primordial dwarfism type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4963764015	Microcephalic osteodysplastic primordial dwarfism type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5244195015	MOPD (microcephalic osteodysplastic primordial dwarfism) type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399816015	A rare bone disease and a form of microcephalic primordial dwarfism characterized by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399817012	A rare bone disease and a form of microcephalic primordial dwarfism characterised by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963761011	MOPD type II - microcephalic osteodysplastic primordial dwarfism type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963762016	Majewski osteodysplastic primordial dwarfism type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963763014	Microcephalic osteodysplastic primordial dwarfism type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4963764015	Microcephalic osteodysplastic primordial dwarfism type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5244195015	MOPD (microcephalic osteodysplastic primordial dwarfism) type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399816015	A rare bone disease and a form of microcephalic primordial dwarfism characterized by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399817012	A rare bone disease and a form of microcephalic primordial dwarfism characterised by 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3407961001000111	Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ II	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3407961001000111	Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ II	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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