725165009: Autosomal dominant omodysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal dominant omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal dominant omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal dominant omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal dominant omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal dominant omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal dominant omodysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant omodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal dominant omodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal dominant omodysplasia

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3439933012 Autosomal dominant omodysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3439934018 Autosomal dominant omodysplasia en Synonym Active Case insensitive SNOMED CT core

3439935017 Omodysplasia 2 en Synonym Active Case insensitive SNOMED CT core

3439936016 An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant omodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant omodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal dominant omodysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant omodysplasia	Is a	Omodysplasia	true	Inferred relationship	Some
Autosomal dominant omodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant omodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant omodysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1

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
3439933012	Autosomal dominant omodysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3439934018	Autosomal dominant omodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3439935017	Omodysplasia 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3439936016	An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	en	Definition	Active	Case sensitive	SNOMED CT core