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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal dominant brachyolmia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Autosomal dominant brachyolmia
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308884018 Autosomal dominant brachyolmia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3308885017 Autosomal dominant brachyolmia en Synonym Active Case insensitive SNOMED CT core

3308886016 Brachyolmia type 3 en Synonym Active Case insensitive SNOMED CT core

3308887013 A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant brachyolmia	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal dominant brachyolmia	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Autosomal dominant brachyolmia	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant brachyolmia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant brachyolmia	Finding site	Bone structure	true	Inferred relationship	Some	1
Autosomal dominant brachyolmia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant brachyolmia	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	2
Autosomal dominant brachyolmia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal dominant brachyolmia	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Autosomal dominant brachyolmia	Associated morphology	Dysplasia	false	Inferred relationship	Some	3
Autosomal dominant brachyolmia	Finding site	Skeletal system structure	false	Inferred relationship	Some	3
Autosomal dominant brachyolmia	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Autosomal dominant brachyolmia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant brachyolmia	Is a	Brachyolmia	true	Inferred relationship	Some
Autosomal dominant brachyolmia	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Autosomal dominant brachyolmia	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Autosomal dominant brachyolmia	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some
Autosomal dominant brachyolmia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Autosomal dominant brachyolmia	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant brachyolmia	Finding site	Bone structure	false	Inferred relationship	Some	3

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
3308884018	Autosomal dominant brachyolmia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308885017	Autosomal dominant brachyolmia	en	Synonym	Active	Case insensitive	SNOMED CT core
3308886016	Brachyolmia type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3308887013	A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core