726032008: Short rib polydactyly syndrome type I (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type

\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Congenital anomaly of limb\Polymelia\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome Saldino Noonan type

\Finding of trunk structure\Finding of upper trunk\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 Saldino Noonan type
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Finding of trunk structure\Disorder of trunk\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 Saldino Noonan type
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Finding of trunk structure\Disorder of trunk\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 Saldino Noonan type
\Finding of trunk structure\Disorder of trunk\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 Saldino Noonan type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Musculoskeletal finding\Musculoskeletal disorder\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 Saldino Noonan type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Musculoskeletal finding\Musculoskeletal disorder\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 Saldino Noonan type

\Disease\Genetic disease\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of body system\Musculoskeletal disorder\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 Saldino Noonan type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of body system\Musculoskeletal disorder\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 Saldino Noonan type
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of extremity\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of trunk\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 Saldino Noonan type
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Disorder of trunk\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 Saldino Noonan type
\Disease\Disorder of trunk\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 Saldino Noonan type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Congenital disease\Congenital anomaly\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 Saldino Noonan type
\Disease\Congenital disease\Congenital anomaly\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 Saldino Noonan type
\Disease\Congenital disease\Congenital anomaly\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 Saldino Noonan type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Congenital disease\Congenital anomaly\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 Saldino Noonan type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Developmental disorder\Developmental hereditary disorder\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Developmental disorder\Congenital anomaly\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 Saldino Noonan type
\Disease\Developmental disorder\Congenital anomaly\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 Saldino Noonan type
\Disease\Developmental disorder\Congenital anomaly\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 Saldino Noonan type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Developmental disorder\Congenital anomaly\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 Saldino Noonan type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Polymelia\Polydactyly\Short rib polydactyly syndrome\Short rib polydactyly syndrome Saldino Noonan type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome Saldino Noonan type

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3447659019 Short rib polydactyly syndrome Saldino Noonan type en Synonym Active Initial character case insensitive SNOMED CT core

3447660012 Saldino Noonan syndrome en Synonym Active Case sensitive SNOMED CT core

3447661011 Short rib polydactyly syndrome type 1 en Synonym Active Case insensitive SNOMED CT core

3447662016 Short rib polydactyly syndrome type I en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3447658010	Short rib polydactyly syndrome type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3447659019	Short rib polydactyly syndrome Saldino Noonan type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3447660012	Saldino Noonan syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3447661011	Short rib polydactyly syndrome type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3447662016	Short rib polydactyly syndrome type I	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core