28204005: Inherited arthrogryposis (disorder)

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

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

\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\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\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited arthrogryposis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited arthrogryposis	Is a	Arthrogryposis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Inherited arthrogryposis	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Inherited arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Is a	Congenital anomaly of joint	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Inherited arthrogryposis	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited arthrogryposis	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Inherited arthrogryposis	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.	Is a	False	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked distal arthrogryposis multiplex congenita (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability, developmental delay, contracture syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal multiple pterygium syndrome	Is a	False	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked lethal multiple pterygium syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Freeman-Sheldon syndrome	Is a	False	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)	Is a	False	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 5	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome musculocontractural type (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12.	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 1 (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 3 (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 2	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital contractural arachnodactyly	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Kuskokwim syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Prenatal-onset spinal muscular atrophy with congenital bone fractures	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
NIMA related kinase 9 lethal skeletal dysplasia (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Pena-Shokeir syndrome type I (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Marden Walker syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal arthrogryposis type 5D (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Digitotalar dysmorphism	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant multiple pterygium syndrome (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal arthrogryposis type 3 (disorder)	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal arthrogryposis type 10	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hecht syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 12	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Alkuraya Kucinskas syndrome	Is a	True	Inherited arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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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
47214011	Inherited arthrogryposis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
4480981000241113	arthrogrypose héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4480981000241113	arthrogrypose héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module