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254088006: 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

\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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

378241014 Brachyolmia en Synonym Active Entire term case insensitive SNOMED CT core module

644931010 Brachyolmia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachyolmia	Is a	Brachyrachia (short spine dysplasia)	false	Inferred relationship	Existential restriction modifier
Brachyolmia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Brachyolmia	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Existential restriction modifier
Brachyolmia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Brachyolmia	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	2
Brachyolmia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Brachyolmia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Brachyolmia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Brachyolmia	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Brachyolmia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Brachyolmia	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	3
Brachyolmia	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	3
Brachyolmia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	3
Brachyolmia	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Existential restriction modifier
Brachyolmia	Is a	Spondylodysplastic group	true	Inferred relationship	Existential restriction modifier
Brachyolmia	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachyolmia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Brachyolmia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Brachyolmia	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachyolmia - Hobaek type	Is a	False	Brachyolmia	Inferred relationship	Existential restriction modifier
Brachyolmia - Maroteaux type	Is a	True	Brachyolmia	Inferred relationship	Existential restriction modifier
Brachyolmia type 1 Toledo type	Is a	False	Brachyolmia	Inferred relationship	Existential restriction modifier
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome	Is a	True	Brachyolmia	Inferred relationship	Existential restriction modifier
Autosomal dominant brachyolmia	Is a	True	Brachyolmia	Inferred relationship	Existential restriction modifier
Autosomal recessive brachyolmia	Is a	True	Brachyolmia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
378241014	Brachyolmia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
644931010	Brachyolmia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module