783789002: Autosomal recessive 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 recessive 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 recessive brachyolmia

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3760380016 Autosomal recessive brachyolmia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3760381017 Autosomal recessive brachyolmia en Synonym Active Entire term case insensitive SNOMED CT core module

3760387018 Brachyolmia Hobaek/Toledo type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive brachyolmia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive brachyolmia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive brachyolmia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive brachyolmia	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive brachyolmia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive brachyolmia	Is a	Brachyolmia	true	Inferred relationship	Existential restriction modifier
Autosomal recessive brachyolmia	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Autosomal recessive brachyolmia	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Existential restriction modifier
Autosomal recessive brachyolmia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive brachyolmia	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive brachyolmia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive 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
3760380016	Autosomal recessive brachyolmia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3760381017	Autosomal recessive brachyolmia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3760387018	Brachyolmia Hobaek/Toledo type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module