24269006: Distal arthrogryposis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\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\Distal arthrogryposis syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

40738012 Distal arthrogryposis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

753886011 Distal arthrogryposis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1223230016 Distal arthrogryposis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal arthrogryposis syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Is a	Arthrogryposis	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Is a	Disorder of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Distal arthrogryposis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	3
Distal arthrogryposis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Is a	Arthrogryposis	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Distal arthrogryposis syndrome	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	2
Distal arthrogryposis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Distal arthrogryposis syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal arthrogryposis type 2B	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Distal arthrogryposis type 5	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Distal arthrogryposis type 4	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Distal arthrogryposis type 1	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Distal arthrogryposis type 6	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Ehlers-Danlos syndrome musculocontractural type	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Freeman-Sheldon syndrome	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Autosomal dominant multiple pterygium syndrome	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Distal arthrogryposis type 5D	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Pelvic dysplasia, arthrogryposis of lower limbs syndrome	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Hypomyelination neuropathy arthrogryposis syndrome	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Distal arthrogryposis type 3	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Distal arthrogryposis type 10	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
40738012	Distal arthrogryposis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
753886011	Distal arthrogryposis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1223230016	Distal arthrogryposis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module