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 type I

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

\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 type I
\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 type I
\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 type I
\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 type I
\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 type I
\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 type I
\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 type I

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

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

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

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 SNOMED CT core module

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

3447660012 Saldino Noonan syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3447661011 Short rib polydactyly syndrome type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

3447662016 Short rib polydactyly syndrome type I en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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	SNOMED CT core module
3447659019	Short rib polydactyly syndrome Saldino Noonan type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3447660012	Saldino Noonan syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3447661011	Short rib polydactyly syndrome type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3447662016	Short rib polydactyly syndrome type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module