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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3439933012 Autosomal dominant omodysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3439934018 Autosomal dominant omodysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3439935017 Omodysplasia 2 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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
3439933012	Autosomal dominant omodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3439934018	Autosomal dominant omodysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3439935017	Omodysplasia 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module