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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Kozlowski spondylometaphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Kozlowski spondylometaphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Kozlowski spondylometaphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Kozlowski spondylometaphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Kozlowski spondylometaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Kozlowski spondylometaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Kozlowski spondylometaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Kozlowski spondylometaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kozlowski spondylometaphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Kozlowski spondylometaphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Kozlowski spondylometaphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Kozlowski spondylometaphyseal dysplasia

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

178536019 Kozlowski spondylometaphyseal dysplasia en Synonym Active Case sensitive SNOMED CT core

3425190013 Spondylometaphyseal dysplasia Kozlowski type en Synonym Active Initial character case insensitive SNOMED CT core

630132012 Kozlowski spondylometaphyseal dysplasia (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3425193010 Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. en Definition Active Case sensitive SNOMED CT core

3425194016 Spondylometaphyseal dysplasia, Kozlowski type is characterised by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalised platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kozlowski spondylometaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Kozlowski spondylometaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Kozlowski spondylometaphyseal dysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Kozlowski spondylometaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Kozlowski spondylometaphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Kozlowski spondylometaphyseal dysplasia	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Kozlowski spondylometaphyseal dysplasia	Is a	Metaphyseal chondrodysplasia	false	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Is a	Osteochondrodysplasia syndrome	false	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Kozlowski spondylometaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Kozlowski spondylometaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
178536019	Kozlowski spondylometaphyseal dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3425190013	Spondylometaphyseal dysplasia Kozlowski type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
630132012	Kozlowski spondylometaphyseal dysplasia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3425193010	Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.	en	Definition	Active	Case sensitive	SNOMED CT core
3425194016	Spondylometaphyseal dysplasia, Kozlowski type is characterised by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalised platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.	en	Definition	Active	Case sensitive	SNOMED CT core