721017000: Postaxial polydactyly and intellectual disability syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Postaxial polydactyly and intellectual disability syndrome (disorder)

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

\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Postaxial polydactyly and intellectual disability syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (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\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (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\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Postaxial polydactyly and intellectual disability syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3323060017 Postaxial polydactyly and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323061018 Postaxial polydactyly and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323062013 Oliver syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402571011 Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402572016 Oliver syndrome is a very rare syndrome characterised by intellectual deficit, postaxial polydactyly, and epilepsy. 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
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	Dysostosis	true	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	Polydactyly (disorder)	true	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Postaxial polydactyly and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Postaxial polydactyly and intellectual disability syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Postaxial polydactyly and intellectual disability syndrome (disorder)	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	3
Postaxial polydactyly and intellectual disability syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Postaxial polydactyly and intellectual disability syndrome (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	3
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Postaxial polydactyly and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Postaxial polydactyly and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Postaxial polydactyly and intellectual disability syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Postaxial polydactyly and intellectual disability syndrome (disorder)	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	1
Postaxial polydactyly and intellectual disability syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Postaxial polydactyly and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Postaxial polydactyly and intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Postaxial polydactyly and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323060017	Postaxial polydactyly and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323061018	Postaxial polydactyly and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323062013	Oliver syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402571011	Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402572016	Oliver syndrome is a very rare syndrome characterised by intellectual deficit, postaxial polydactyly, and epilepsy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core