111304003: Kozlowski spondylometaphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

178536019 Kozlowski spondylometaphyseal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

630132012 Kozlowski spondylometaphyseal dysplasia (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3425190013 Spondylometaphyseal dysplasia Kozlowski 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
Kozlowski spondylometaphyseal dysplasia	Is a	Metaphyseal chondrodysplasia	false	Inferred relationship	Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia	Is a	Osteochondrodysplasia syndrome	false	Inferred relationship	Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Kozlowski spondylometaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Kozlowski spondylometaphyseal dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Kozlowski spondylometaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Kozlowski spondylometaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Kozlowski spondylometaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Kozlowski spondylometaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Kozlowski spondylometaphyseal dysplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Kozlowski spondylometaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Kozlowski spondylometaphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Kozlowski spondylometaphyseal dysplasia	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Existential restriction modifier
Kozlowski 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
178536019	Kozlowski spondylometaphyseal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
630132012	Kozlowski spondylometaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3425190013	Spondylometaphyseal dysplasia Kozlowski type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module