Arthrogryposis multiplex congenita
Autosomal recessive hereditary disorder
Inherited arthrogryposis
Multiple malformation syndrome with facial defects as major feature
||||
Van den Ende-Gupta syndrome (disorder)
Van den Ende-Gupta syndrome
Marden Walker like syndrome
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
Id719845008
StatusPrimitive
Associated morphologyContracture
Finding siteStructure of joint region
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsRange of joint movement
Associated morphologyContracture
Finding siteJoint structure of multiple body sites
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified