254102008: Osteodysplastic primordial dwarfism, type 1 (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\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\Osteodysplastic primordial dwarfism, type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\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\Osteodysplastic primordial dwarfism, type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteodysplastic primordial dwarfism, type 1	Is a	Osteodysplastic primordial dwarfism	true	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 1	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Occurrence	Congenital	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 1	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Osteodysplastic primordial dwarfism, type 1	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism, type 1	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism, type 1	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism, type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378261015	Osteodysplastic primordial dwarfism, type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644947012	Osteodysplastic primordial dwarfism, type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7670161000172111	MOPD I - microcephalic osteodysplastic primordial dwarfism type I	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7670171000172119	nanisme primordial ostéodysplasique de type I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7670181000172116	syndrome de Taybi-Linder	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5545781000172117	osteodysplastische primordiale dwerggroei type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)