1279843003: Short rib polydactyly syndrome type V (disorder)

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

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

\Disorder of digit\Congenital anomaly of digit (disorder)\...

\Syndactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5

\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome type 5

\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5

\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\Short rib polydactyly syndrome type 5
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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 5
\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\Short rib polydactyly syndrome type 5

\Disease\Genetic disease\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome type 5
\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 5
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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 5
\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\Short rib polydactyly syndrome type 5
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\Disease\Developmental disorder\Developmental hereditary disorder\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\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\Short rib polydactyly syndrome type 5
\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 5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Short rib dysplasia\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\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\Short rib polydactyly syndrome type 5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\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 5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Short rib polydactyly syndrome\Short rib polydactyly syndrome type 5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Polysyndactyly (disorder)\Short rib polydactyly syndrome type 5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Micromelia\Short rib polydactyly syndrome type 5

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5234085010 Short rib polydactyly syndrome type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5234086011 Short rib polydactyly syndrome type V (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5234087019 Short rib polydactyly syndrome type V en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5234088012 A rare ciliopathy with major skeletal involvement with characteristics of short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet and hypoplastic scapulae. Additional hallmarks of ciliopathy disease such as laterality defects and cystic kidneys have also been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short rib polydactyly syndrome type 5	Is a	Short rib polydactyly syndrome	true	Inferred relationship	Some
Short rib polydactyly syndrome type 5	Is a	Micromelia	true	Inferred relationship	Some
Short rib polydactyly syndrome type 5	Is a	Polysyndactyly (disorder)	true	Inferred relationship	Some
Short rib polydactyly syndrome type 5	Occurrence	Congenital	true	Inferred relationship	Some	1
Short rib polydactyly syndrome type 5	Finding site	Digit structure	true	Inferred relationship	Some	1
Short rib polydactyly syndrome type 5	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	1
Short rib polydactyly syndrome type 5	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short rib polydactyly syndrome type 5	Occurrence	Congenital	true	Inferred relationship	Some	2
Short rib polydactyly syndrome type 5	Finding site	Entire limb	true	Inferred relationship	Some	2
Short rib polydactyly syndrome type 5	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Short rib polydactyly syndrome type 5	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short rib polydactyly syndrome type 5	Occurrence	Congenital	true	Inferred relationship	Some	3
Short rib polydactyly syndrome type 5	Finding site	Digit structure	true	Inferred relationship	Some	3
Short rib polydactyly syndrome type 5	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	3
Short rib polydactyly syndrome type 5	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Short rib polydactyly syndrome type 5	Occurrence	Congenital	true	Inferred relationship	Some	4
Short rib polydactyly syndrome type 5	Finding site	Bone structure of rib	true	Inferred relationship	Some	4
Short rib polydactyly syndrome type 5	Associated morphology	Dysplasia	true	Inferred relationship	Some	4
Short rib polydactyly syndrome type 5	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Short rib polydactyly syndrome type 5	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Some	1
Short rib polydactyly syndrome type 5	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5234085010	Short rib polydactyly syndrome type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234086011	Short rib polydactyly syndrome type V (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5234087019	Short rib polydactyly syndrome type V	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5234088012	A rare ciliopathy with major skeletal involvement with characteristics of short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet and hypoplastic scapulae. Additional hallmarks of ciliopathy disease such as laterality defects and cystic kidneys have also been observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core