205484001: korte-rib-polydactyliesyndroom (aandoening)

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

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome

\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 malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\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
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\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
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\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
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\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
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\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
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\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
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome
\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 malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital malformation of bone of thorax (disorder)\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome

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

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	Is a	Short rib dysplasia group (with or without polydactyly)	false	Inferred relationship	Some
Short rib polydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Short rib polydactyly syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Short rib polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Short rib polydactyly syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Short rib polydactyly syndrome	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Short rib polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Short rib polydactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short rib polydactyly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Short rib polydactyly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Short rib polydactyly syndrome	Is a	Short rib dysplasia	true	Inferred relationship	Some
Short rib polydactyly syndrome	Is a	Polydactyly (disorder)	true	Inferred relationship	Some
Short rib polydactyly syndrome	Finding site	Digit structure	true	Inferred relationship	Some	1
Short rib polydactyly syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	1
Short rib polydactyly syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Short rib polydactyly syndrome	Finding site	Bone structure of rib	true	Inferred relationship	Some	2
Short rib polydactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short rib polydactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Short rib-polydactyly syndrome, Majewski type	Is a	True	Short rib polydactyly syndrome	Inferred relationship	Some
Type III short rib polydactyly syndrome	Is a	True	Short rib polydactyly syndrome	Inferred relationship	Some
Type IV short rib polydactyly syndrome	Is a	True	Short rib polydactyly syndrome	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	Is a	True	Short rib polydactyly syndrome	Inferred relationship	Some
Short rib polydactyly syndrome type 5	Is a	True	Short rib polydactyly syndrome	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
315103013	Short rib polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590857018	Short rib polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
690961000146112	korte-rib-polydactyliesyndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
690971000146118	korte-rib-polydactyliesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)