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28204005: Inherited arthrogryposis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of movement\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\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\Congenital anomaly\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 anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis

Status: current, Defined. Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

47214011 Inherited arthrogryposis en Synonym Active Case insensitive SNOMED CT core

758858018 Inherited arthrogryposis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited arthrogryposis	Occurrence	Congenital	true	Inferred relationship	Some	1
Inherited arthrogryposis	Pathological process	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
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	Congenital anomaly	false	Inferred relationship	Some
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	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Inherited arthrogryposis	Associated morphology	Congenital anomaly	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	Developmental abnormality	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	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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aase Smith type 1 syndrome	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	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Arthrogryposis with renal dysfunction and cholestasis syndrome	Is a	False	Inherited arthrogryposis	Inferred relationship	Some
Fetal akinesia, cerebral and retinal haemorrhage syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Morse Rawnsley Sargent syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type	Is a	False	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	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 3	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 2	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Camptobrachydactyly	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
Arthrogryposis-like syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
X-linked distal arthrogryposis multiplex congenita	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Van den Ende-Gupta syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Adducted thumbs and arthrogryposis syndrome Christian type	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Arthrogryposis multiplex congenita and whistling face syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
German syndrome	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	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita	Is a	True	Inherited arthrogryposis	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome	Is a	False	Inherited arthrogryposis	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
47214011	Inherited arthrogryposis	en	Synonym	Active	Case insensitive	SNOMED CT core
758858018	Inherited arthrogryposis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core