72922008: Short rib-polydactyly syndrome, Majewski type (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type

\Disease\Genetic disease\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of body wall (disorder)\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Developmental hereditary disorder\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib-polydactyly syndrome, Majewski type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short rib-polydactyly syndrome, Majewski type	Is a	Congenital anomaly of rib	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	Short rib dysplasia group (with or without polydactyly)	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	Fibrochondrogenesis	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	Polydactyly (disorder)	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Developmental anomaly	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Finding site	Connective tissue	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Finding site	Bone structure of rib	true	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Occurrence	Congenital	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Finding site	Digit structure	false	Inferred relationship	Some	3
Short rib-polydactyly syndrome, Majewski type	Is a	Short rib-polydactyly syndrome, non-Majewski type	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	3
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Finding site	Bone structure	false	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Is a	Short rib dysplasia group (with or without polydactyly)	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	Fibrochondrogenesis	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	Congenital anomaly of rib	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	Polydactyly (disorder)	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Finding site	Bone structure of rib	false	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Finding site	Bone structure	false	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Finding site	Digit structure	false	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Occurrence	Congenital	true	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Short rib-polydactyly syndrome, Majewski type	Finding site	Limb structure	false	Inferred relationship	Some	4
Short rib-polydactyly syndrome, Majewski type	Occurrence	Congenital	false	Inferred relationship	Some	5
Short rib-polydactyly syndrome, Majewski type	Occurrence	Congenital	false	Inferred relationship	Some	6
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Short rib-polydactyly syndrome, Majewski type	Finding site	Bone structure of rib	false	Inferred relationship	Some	6
Short rib-polydactyly syndrome, Majewski type	Finding site	Bone structure	false	Inferred relationship	Some	5
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Short rib-polydactyly syndrome, Majewski type	Is a	Short rib polydactyly syndrome	true	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	3
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Occurrence	Congenital	false	Inferred relationship	Some	3
Short rib-polydactyly syndrome, Majewski type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Occurrence	Congenital	true	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Finding site	Digit structure	true	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Finding site	Bone structure of rib	false	Inferred relationship	Some	3
Short rib-polydactyly syndrome, Majewski type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Finding site	Bone structure	false	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Short rib-polydactyly syndrome, Majewski type	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some

Inbound Relationships

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Source

Characteristic

Refinability

Group

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
121125010	Short rib-polydactyly syndrome, Majewski type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
121126011	Short-rib syndrome, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
813253017	Short rib-polydactyly syndrome, Majewski type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233565010	Type II short rib polydactyly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233566011	Majewski-type short rib polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
884391000172111	syndrome des côtes courtes, polydactylie type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
993961000172113	syndrome des côtes courtes-polydactylie type Majewski	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
928621000172112	korte rib-polydactyliesyndroom, Majewski-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
929511000172111	korte rib-polydactyliesyndroom type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)