771177009: Ectrodactyly polydactyly syndrome (disorder)

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

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

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

\Polydactyly (disorder)\Ectrodactyly polydactyly syndrome

\Adactyly\Ectrodactyly\Ectrodactyly polydactyly syndrome

\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Ectrodactyly polydactyly syndrome
\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly (disorder)\Ectrodactyly polydactyly syndrome
\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Ectrodactyly\Ectrodactyly polydactyly syndrome
\Congenital anomaly of limb\Polymelia\Polydactyly (disorder)\Ectrodactyly polydactyly syndrome
\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Ectrodactyly\Ectrodactyly polydactyly syndrome

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3704756017 Ectrodactyly polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704757014 Ectrodactyly polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704758016 A rare genetic congenital limb malformation disorder with characteristics of hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. 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
Ectrodactyly polydactyly syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	2
Ectrodactyly polydactyly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ectrodactyly polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Ectrodactyly polydactyly syndrome	Is a	Polydactyly (disorder)	true	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectrodactyly polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Ectrodactyly polydactyly syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	3
Ectrodactyly polydactyly syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Ectrodactyly polydactyly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Is a	Ectrodactyly	true	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Finding site	Entire digit	true	Inferred relationship	Some	2
Ectrodactyly polydactyly syndrome	Finding site	Digit structure	true	Inferred relationship	Some	3
Ectrodactyly polydactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ectrodactyly polydactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ectrodactyly polydactyly syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ectrodactyly polydactyly syndrome	Is a	Adactyly	false	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ectrodactyly polydactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	2
Ectrodactyly polydactyly syndrome	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Some

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
3704756017	Ectrodactyly polydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704757014	Ectrodactyly polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704758016	A rare genetic congenital limb malformation disorder with characteristics of hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core