702342007: Dolichospondylic dysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Hereditary disorder of musculoskeletal system\3-M syndrome

\Disorder of skeletal system\Skeletal dysplasia\3-M syndrome

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\3-M syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\3-M syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\3-M syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-M syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\3-M syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\3-M syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\3-M syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\3-M syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\3-M syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\3-M syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\3-M syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

2995017014 3-M syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2995192019 3M syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2995591018 Dolichospondylic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995895015 Le Merrer syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2995903019 Miller-McKusick-Malvaux syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995927017 Dolichospondylic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-M syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
3-M syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
3-M syndrome	Is a	Skeletal dysplasia	true	Inferred relationship	Some
3-M syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
3-M syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
3-M syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
3-M syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
3-M syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
3-M syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
3-M syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
3-M syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets