702342007: Dolichospondylic dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Dolichospondylic dysplasia

\Disorder of skeletal system\Congenital skeletal dysplasia\Dolichospondylic dysplasia

\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dolichospondylic dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dolichospondylic dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dolichospondylic dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dolichospondylic dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dolichospondylic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dolichospondylic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dolichospondylic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dolichospondylic dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dolichospondylic dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Dolichospondylic dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dolichospondylic dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

2995017014 3-M syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
2995192019 3M syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
2995591018 Dolichospondylic dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2995895015 Le Merrer syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
2995903019 Miller-McKusick-Malvaux syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
2995927017 Dolichospondylic dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dolichospondylic dysplasia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Dolichospondylic dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Dolichospondylic dysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Dolichospondylic dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Dolichospondylic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Dolichospondylic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Dolichospondylic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Dolichospondylic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Dolichospondylic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Dolichospondylic dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	1
Dolichospondylic dysplasia	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