717264003: Autosomal dominant brachyolmia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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 (disorder)

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3308885017 Autosomal dominant brachyolmia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308886016 Brachyolmia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3874991000052119 autosomalt dominant brakyolmi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

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
3308884018	Autosomal dominant brachyolmia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308885017	Autosomal dominant brachyolmia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308886016	Brachyolmia type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3874991000052119	autosomalt dominant brakyolmi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)