721094006: Diaphanospondylodysostosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diaphanospondylodysostosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diaphanospondylodysostosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diaphanospondylodysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
\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\Spondylodysplastic group\Diaphanospondylodysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Diaphanospondylodysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis
\Disease\Developmental disorder\Developmental hereditary disorder\Diaphanospondylodysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Diaphanospondylodysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylodysplastic group\Diaphanospondylodysostosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Diaphanospondylodysostosis

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

Descriptions:

Id Description Lang Type Status Case? Module

3323478016 Diaphanospondylodysostosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3323479012 Diaphanospondylodysostosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diaphanospondylodysostosis	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Diaphanospondylodysostosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Diaphanospondylodysostosis	Is a	Spondylodysplastic group	true	Inferred relationship	Existential restriction modifier
Diaphanospondylodysostosis	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Diaphanospondylodysostosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Diaphanospondylodysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Diaphanospondylodysostosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Diaphanospondylodysostosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Diaphanospondylodysostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Diaphanospondylodysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Diaphanospondylodysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Diaphanospondylodysostosis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Diaphanospondylodysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Diaphanospondylodysostosis	Is a	Developmental hereditary disorder	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
3323478016	Diaphanospondylodysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3323479012	Diaphanospondylodysostosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module