254102008: Osteodysplastic primordial dwarfism, type 1 (disorder)

SNOMED CT Concept\Clinical finding\...

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

\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\Osteodysplastic primordial dwarfism, type 1

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

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\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\Osteodysplastic primordial dwarfism, type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Congenital disease\Congenital anomaly\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\Congenital anomaly of skeletal bone\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteodysplastic primordial dwarfism\Osteodysplastic primordial dwarfism, type 1
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378261015 Osteodysplastic primordial dwarfism, type 1 en Synonym Active Case insensitive SNOMED CT core

644947012 Osteodysplastic primordial dwarfism, type 1 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteodysplastic primordial dwarfism, type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 1	Interprets	Height / growth measure	true	Inferred relationship	Some	2
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	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	Is a	Osteodysplastic primordial dwarfism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
378261015	Osteodysplastic primordial dwarfism, type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
644947012	Osteodysplastic primordial dwarfism, type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core