771301002: Axial spondylometaphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Axial spondylometaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Axial spondylometaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Axial spondylometaphyseal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Axial spondylometaphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\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\Axial spondylometaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Axial spondylometaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Axial spondylometaphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Axial spondylometaphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Axial spondylometaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Axial spondylometaphyseal dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

3705543019 Axial spondylometaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3705544013 Axial spondylometaphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Axial spondylometaphyseal dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Axial spondylometaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Axial spondylometaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Axial spondylometaphyseal dysplasia	Is a	Metaphyseal chondrodysplasia	false	Inferred relationship	Existential restriction modifier
Axial spondylometaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Axial spondylometaphyseal dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Axial spondylometaphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Axial spondylometaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Axial spondylometaphyseal dysplasia	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Existential restriction modifier
Axial spondylometaphyseal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier

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
3705543019	Axial spondylometaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3705544013	Axial spondylometaphyseal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module