717264003: Autosomal dominant brachyolmia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal dominant brachyolmia

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal dominant brachyolmia

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal dominant brachyolmia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant brachyolmia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\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\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Developmental disorder\Developmental hereditary disorder\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal dominant brachyolmia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3308884018 Autosomal dominant brachyolmia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3308885017 Autosomal dominant brachyolmia en Synonym Active Entire term case insensitive SNOMED CT core module

3308886016 Brachyolmia type 3 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 brachyolmia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant brachyolmia	Is a	Brachyolmia	true	Inferred relationship	Existential restriction modifier
Autosomal dominant brachyolmia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Autosomal dominant brachyolmia	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Autosomal dominant brachyolmia	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Existential restriction modifier
Autosomal dominant brachyolmia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant brachyolmia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant brachyolmia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant brachyolmia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant brachyolmia	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant brachyolmia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant brachyolmia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant brachyolmia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant brachyolmia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant brachyolmia	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant brachyolmia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant brachyolmia	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant brachyolmia	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant brachyolmia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant brachyolmia	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3308884018	Autosomal dominant brachyolmia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3308885017	Autosomal dominant brachyolmia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3308886016	Brachyolmia type 3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module