| syndroom van Carney-complex, trismus en pseudocamptodactylie (aandoening) | | syndroom van Carney-complex, trismus en pseudocamptodactylie | | Carney-complexvariant
syndroom van LAMB-syndroom, trismus en distale arthrogryposis
syndroom van NAME-syndroom, trismus en distale arthrogryposis
| | Carney complex, trismus, pseudocamptodactyly syndrome | | Carney complex variant
| | Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). |
| | Id | 766881008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 319340 |
| SNOMED CT to ICD-10 extended map | | Target | Q68.8 | | Rule | TRUE | | Advice | ALWAYS Q68.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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