254101001: Osteodysplastic primordial dwarfism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Clinical history and observation findings\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism
\Clinical history and observation findings\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

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism

\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
378260019	Osteodysplastic primordial dwarfism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
644946015	Osteodysplastic primordial dwarfism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3849571000052114	osteodysplastisk primordial kortvuxenhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteodysplastic primordial dwarfism	Is a	Osteochondrodysplasia syndrome	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Occurrence	Congenital	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	Is a	Primordial dwarfism	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteodysplastic primordial dwarfism, type 1	Is a	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 2	Is a	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Is a	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Is a	True	Osteodysplastic primordial dwarfism	Inferred relationship	Some

This concept is not in any reference sets

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