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784006008: Spondylometaphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia

\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia

\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia

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

3760993019 Spondylometaphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

3760994013 Spondylometaphyseal dysplasia (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
Spondylometaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia Schmidt type	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Hall Riggs syndrome	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia Golden type	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia A4 type	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Autosomal recessive spondylometaphyseal dysplasia Megarbane type	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia - Sutcliffe type	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia Czarny Ratajczak type	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Axial spondylometaphyseal dysplasia	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Regressive spondylometaphyseal dysplasia	Is a	True	Spondylometaphyseal dysplasia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3760993019	Spondylometaphyseal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3760994013	Spondylometaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module