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401138005: Pena-Shokeir syndrome type I (disorder)

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

\Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Pena-Shokeir syndrome type I (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Pena-Shokeir syndrome type I (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Pena-Shokeir syndrome type I (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pena-Shokeir syndrome type I (disorder)	Is a	Pena-Shokeir phenotype	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Pena-Shokeir syndrome type I (disorder)	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pena-Shokeir syndrome type I (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Pena-Shokeir syndrome type I (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Pena-Shokeir syndrome type I (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pena-Shokeir syndrome type I (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pena-Shokeir syndrome type I (disorder)	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pena-Shokeir syndrome type I (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pena-Shokeir syndrome type I (disorder)	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pena-Shokeir syndrome type I (disorder)	Is a	A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pena-Shokeir syndrome type I (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pena-Shokeir syndrome type I (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pena-Shokeir syndrome type I (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pena-Shokeir syndrome type I (disorder)	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pena-Shokeir syndrome type I (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pena-Shokeir syndrome type I (disorder)	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pena-Shokeir syndrome type I (disorder)	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pena-Shokeir syndrome type I (disorder)	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

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
1769059014	Pena-Shokeir syndrome type I (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1780339018	Pena-Shokeir syndrome type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1787452014	Fetal akinesia-hypokinesia sequence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1787454010	Foetal akinesia-hypokinesia sequence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171547012	Arthrogryposis multiplex congenita, pulmonary hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171548019	FADS - foetal akinesia deformation sequence	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5171549010	FADS - fetal akinesia deformation sequence	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1769059014	Pena-Shokeir syndrome type I (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1780339018	Pena-Shokeir syndrome type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1787452014	Fetal akinesia-hypokinesia sequence	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787452014	Fetal akinesia-hypokinesia sequence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1787453016	Pena-Shokeir phenotype	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787453016	Pena-Shokeir phenotype	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1787454010	Foetal akinesia-hypokinesia sequence	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787454010	Foetal akinesia-hypokinesia sequence	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171547012	Arthrogryposis multiplex congenita, pulmonary hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171548019	FADS - foetal akinesia deformation sequence	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5171549010	FADS - fetal akinesia deformation sequence	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3438141001000119	Fetale Akinesie/Hypokinesie-Sequenz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5259101000241114	syndrome Pena-Shokeir type	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5259101000241114	syndrome Pena-Shokeir type	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438141001000119	Fetale Akinesie/Hypokinesie-Sequenz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module