773304004: Spondylometaphyseal dysplasia Golden type (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Spondylometaphyseal dysplasia Golden type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type
\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\Spondylometaphyseal dysplasia Golden type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Spondylometaphyseal dysplasia Golden type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylometaphyseal dysplasia Golden type

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

3723053017 Spondylometaphyseal dysplasia Golden type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3723054011 X-linked spondylometaphyseal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

3723055012 Spondylometaphyseal dysplasia Golden 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
Spondylometaphyseal dysplasia Golden type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia Golden type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia Golden type	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia Golden type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia Golden type	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia Golden type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia Golden type	Is a	Spondyloepimetaphyseal disorder	false	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia Golden type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Spondylometaphyseal dysplasia Golden type	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia Golden type	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia Golden type	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3723053017	Spondylometaphyseal dysplasia Golden type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3723054011	X-linked spondylometaphyseal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3723055012	Spondylometaphyseal dysplasia Golden type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module