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28204005: Inherited arthrogryposis (disorder)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

47214011 Inherited arthrogryposis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
758858018 Inherited arthrogryposis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1884661000052119 ärftlig artrogrypos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited arthrogryposis	Is a	Arthrogryposis	true	Inferred relationship	Some
Inherited arthrogryposis	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Inherited arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Some
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Inherited arthrogryposis	Associated morphology	Contracture	true	Inferred relationship	Some	1
Inherited arthrogryposis	Finding site	Brain structure	false	Inferred relationship	Some
Inherited arthrogryposis	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Inherited arthrogryposis	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Inherited arthrogryposis	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Inherited arthrogryposis	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Inherited arthrogryposis	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Inherited arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Some	3
Inherited arthrogryposis	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	3
Inherited arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Some	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Inherited arthrogryposis	Is a	Congenital anomaly of joint	false	Inferred relationship	Some
Inherited arthrogryposis	Associated morphology	Contracture	false	Inferred relationship	Some	2
Inherited arthrogryposis	Occurrence	Congenital	true	Inferred relationship	Some	1
Inherited arthrogryposis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Inherited arthrogryposis	Has interpretation	Decreased	true	Inferred relationship	Some	2
Inherited arthrogryposis	Interprets	Range of joint movement	true	Inferred relationship	Some	2
Inherited arthrogryposis	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Inherited arthrogryposis	Is a	Hereditary disease	false	Inferred relationship	Some
Inherited arthrogryposis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal arthrogryposis syndrome	Is a	False	Inherited arthrogryposis	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
X-linked distal arthrogryposis multiplex congenita (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Van den Ende-Gupta syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
German syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	False	Inherited arthrogryposis	Inferred relationship	Some
X-linked lethal multiple pterygium syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	False	Inherited arthrogryposis	Inferred relationship	Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)	Is a	False	Inherited arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 5	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Congenital lethal myopathy Compton North type	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 1 (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 3 (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 2 (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Camptobrachydactyly (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Arthrogryposis and ectodermal dysplasia syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Congenital contractural arachnodactyly	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Kuskokwim syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Pena-Shokeir syndrome type I (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Marden Walker syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Distal arthrogryposis type 5D (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Distal arthrogryposis type 1 (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Autosomal dominant multiple pterygium syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Distal arthrogryposis type 10 (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Hecht syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Is a	True	Inherited arthrogryposis	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
47214011	Inherited arthrogryposis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758858018	Inherited arthrogryposis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1884661000052119	ärftlig artrogrypos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)