726032008: Short rib polydactyly syndrome type I (disorder)

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

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

\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)

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

\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)

\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 type I (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\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 type I (disorder)

\Disease\Genetic disease\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\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 type I (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome type I (disorder)
\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 type I (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\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 type I (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\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 type I (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type I (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome type I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3447658010 Short rib polydactyly syndrome type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3447659019 Short rib polydactyly syndrome Saldino Noonan type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3447660012 Saldino Noonan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3447661011 Short rib polydactyly syndrome type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3447662016 Short rib polydactyly syndrome type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4361408015 An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (flipper-like extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3998501000052113 korta revben-polydaktylisyndrom, Saldino-Noonantyp sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short rib polydactyly syndrome type I (disorder)	Is a	Micromelia	true	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	Is a	Congenital anomaly of rib	false	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	Is a	Short rib polydactyly syndrome	true	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	Is a	Polydactyly (disorder)	false	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Short rib polydactyly syndrome type I (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Short rib polydactyly syndrome type I (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	7
Short rib polydactyly syndrome type I (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Short rib polydactyly syndrome type I (disorder)	Finding site	Bone structure of rib	false	Inferred relationship	Some	7
Short rib polydactyly syndrome type I (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Short rib polydactyly syndrome type I (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	6
Short rib polydactyly syndrome type I (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	6
Short rib polydactyly syndrome type I (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	5
Short rib polydactyly syndrome type I (disorder)	Finding site	Entire limb	false	Inferred relationship	Some	5
Short rib polydactyly syndrome type I (disorder)	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	8
Short rib polydactyly syndrome type I (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	8
Short rib polydactyly syndrome type I (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Short rib polydactyly syndrome type I (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	1
Short rib polydactyly syndrome type I (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Short rib polydactyly syndrome type I (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short rib polydactyly syndrome type I (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Short rib polydactyly syndrome type I (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Short rib polydactyly syndrome type I (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Short rib polydactyly syndrome type I (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Short rib polydactyly syndrome type I (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short rib polydactyly syndrome type I (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Short rib polydactyly syndrome type I (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
Short rib polydactyly syndrome type I (disorder)	Finding site	Entire limb	true	Inferred relationship	Some	2
Short rib polydactyly syndrome type I (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Short rib polydactyly syndrome type I (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	3
Short rib polydactyly syndrome type I (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	4
Short rib polydactyly syndrome type I (disorder)	Finding site	Bone structure of rib	false	Inferred relationship	Some	4
Short rib polydactyly syndrome type I (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Short rib polydactyly syndrome type I (disorder)	Finding site	Bone structure of rib	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3447658010	Short rib polydactyly syndrome type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447659019	Short rib polydactyly syndrome Saldino Noonan type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447660012	Saldino Noonan syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447661011	Short rib polydactyly syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447662016	Short rib polydactyly syndrome type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4361408015	An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (flipper-like extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3998501000052113	korta revben-polydaktylisyndrom, Saldino-Noonantyp	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)